Data obtained from a Neanderthal woman's toe bone points to incest and inbreeding among early humans, an international genetics team reported on Wednesday.

The fossil's genetic map, or genome, reported from Denisova cave in Siberia's Altai Mountains dates to more than 50,000 years ago. The cave was home at separate times to both Neanderthals and the so-called Denisovans, two sister families of now-extinct early humans. (See also "New Type of Ancient Human Found.")

Adding to increasing evidence of a tangled human family tree, the new Neanderthal genome study released by the journal Nature also suggests that another previously unknown archaic human species shared its genes with some of our ancestors. The study authors suggest that it was Homo erectus, one of the earliest human species, which first arose around 1.8 million years ago. (See also "Why Am I a Neanderthal?")

The report, led by Germany's Kay Prfer of the Max Planck Institute for Evolutionary Anthropology in Leipzig, builds on recent prehistoric genetics results that argue against theories that modern humans arose completely from one "out of Africa" migration more than 60,000 years ago that spread worldwide without mating with other early humans.

Instead, it looks like early modern humans sometimes mated with archaic human cousins they met along the way. People of non-African origin broadly have genes that are 1.5 percent to 2.1 percent Neanderthal, according to the study, with proportions higher among Asians and Native Americans. Similarly, 5 percent of the genome of people of Australian and Papua New Guinea descent looks Denisovan, as does 0.2 percent of the genes of people from Asia.

"We don't have one ancestral group, but proportions of ancestral groups," says computational biologist Rasmus Nielsen of the University of California, Berkeley, who was not part of the study team. "I think they make a convincing argument."

"In my view, this paper heralds the completion of the Neanderthal genome project in terms of mapping an entire genome," says paleontologist and human origins expert Richard Potts of the Smithsonian's National Museum of Natural History in Washington, D.C. "That's pretty cool science."

Kissing Cousins

In 2010, the study's toe bone first turned up at Denisova Cave, where excellent fossil preservation conditions had allowed for the genetic mapping of the then-surprising Denisovan finger bone found in 2008. Gene tests showed the toe belonged to a Neanderthal, and Prfer and colleagues began calculating its full genetic map.

Photograph by B. Viola, MPI f. Evolutionary Anthropology

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Ancient Incest Uncovered in Neanderthal Genome

A team of geneticists has identified a possible link between mutations that cause early cognitive impairments, such as dyslexia, and schizophrenia and autism.

The study was led by members of an Icelandic biopharmaceutical company specialising in the human genome, called deCODE genetics, and was based on work done by those before them into possible links between copy number variant (CNV) mutations and schizophrenia and autism.

CNVs occur when parts of the genome have an abnormal number of copies -- this could be represented as a deletion or duplication of a section of a particular chromosome. A number of these CNVs have in the past been identified in those suffering from psychiatric disorders, and the deCODE genetics team sought to track down how these markers alter the brain over time by comparing the genetics of sufferers of psychiatric disorders against healthy volunteers that carry those same mutations.

"In a small fraction of patients with schizophrenia or autism, alleles of CNVs in their genomes are probably the strongest factors contributing to the pathogenesis of the disease," write the authors in the paper, published in Nature. "These CNVs may provide an entry point for investigations into the mechanisms of brain function and dysfunction alike."

Working alongside the Central Institute of Mental Health in Mannheim, Germany, the team used a genealogical database of more than 100,000 Icelanders to track down carriers of the mutations. They found 26 CNV alleles, already identified as being markers for an increased predisposition of the disorders, in just 1.16 percent of candidates -- those 1,178 people carried one or more of the mutations each. According to a report by medwireNews, of these 167 carried specific neuropsychiatric-related CNVs but had not been diagnosed with any such condition.

The team then went about administering a series of neuropsychiatric and cognitive tests to those 167 individuals, along with a healthy control group, schizophrenia sufferers and carriers of other unrelated CNVs.

What they found, was a distinct link between mild cognitive impairments and CNVs linked to neuropsychiatric disorders, which makes sense, considering autism and schizophrenia are cognitive impairments. The carriers of neuropsychiatric-linked CNVs performed significantly worse in cognitive tasks than those with unrelated CNVs, and were more likely to have a history of learning disabilities such as dyslexia. They did, however, perform far better than patients with schizophrenia.

Digging further, the team broke down the specific CNVs. They found that those that performed poorly in the cognitive tasks and also had a history of dyslexia and dyscalculia carried the same CNV -- a deletion in chromosome 15, known as 15q11.2. Carrying out MRI scans of these volunteers' brains, they found the structure had altered in the same regions that are altered in patients with early signs of schizophrenia and in those with dyslexia

"This study provides one of the first footholds into biochemical understanding of humans' unique cognitive abilities," lead author on the study and deCODE genetics CEO Kari Stefansson said in a statement. "The findings also provide insight into which cognitive abilities put individuals at risk of developing schizophrenia and demonstrate that control carriers provide an opportunity to study cognitive abnormalities without the confounding effects of psychosis or medication."

This is not the first time a significant genetic link has been made between different cognitive impairments. Earlier this year a paper published in Nature Communications revealed the results of a novel study that involved the descendants of those living in isolated small towns in northern Finland, where cases of neuropsychiatric disorders are unusually common.

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Genetic markers for schizophrenia linked to unrelated cognitive impairments

Newswise Kurt Hirschhorn, MD, who launched the Icahn School of Medicine at Mount Sinais Human Genetics Program in 1966, and went on to shape the department, and lead genetics on the national and international scene, is sharing the American Society of Human Genetics 2013 Victor A. McKusick Leadership Award with his wife, Rochelle Hirschhorn, MD, Research Professor and Professor Emerita of Medicine, Cell Biology and Pediatrics, NYU Langone Medical Center. The Award recognizes individuals whose professional achievements have fostered and enriched the development of human genetics.

The McKusick Leadership Award was given to the husband-and-wife team at the 63rd ASHG Annual Meeting in Boston, Massachusetts, on October 26. Dr. Hirschhorn is Professorial Lecturer of Pediatrics and Human Genetics, Professorial Lecturer of Genetics and Genomics Sciences and Professorial Lecturer of Medicine at the Icahn School of Medicine at Mount Sinai. Dr. Rochelle Hirschhorn is a Research Professor and Professor Emerita of Medicine, Cell Biology and Pediatrics at NYU Langone Medical Center.

The Hirschhorns son, Joel Hirschhorn, MD, PhD, Associate Professor of Genetics, Childrens Hospital and Harvard Medical School, Boston, MA, introduced his parents for the awards ceremony. Reflecting on the introduction, he said: I am both proud and moved that my parents' long-standing leadership in many aspects of human genetics was recognized by their receiving the Victor A. McKusick Leadership Award. It was a thrill to be able to introduce them at the ASHG meeting.

In presenting the award, American Society of Human Genetics Executive Vice President Joseph D. McInerney said: The enduring leadership and vision provided by the Drs. Hirschhorn have helped human genetics to flourish and assimilate into the broader context of science, medicine and health. They also have helped to improve awareness and understanding of human genetics among policymakers and the general public.

Dr. Kurt Hirschhorn established the program of Human Genetics in the Department of Pediatrics at Mount Sinai in 1966 when he was recruited from the Department of Medicine at NYU School of Medicine. When he was named Chair of Pediatrics at Mount Sinai in 1977, he recruited Dr. Robert Desnick from the University of Minnesota School of Medicine and turned the Division of Human Genetics over to him. In 1996, he helped to found an independent Department of Human Genetics at Mount Sinai, which was chaired by Dr. Desnick until 2007, when Dr. Eric Schadt was recruited from California to become the new Chair of Genetics and Genomics and the head of the Icahn Institute if Genomics and Multiscale Biology. Dr. Desnick became the Dean for Genetics and Genomics. Dr. Hirschhorrn remains deeply involved in the activities of the Department.

I am extremely honored and grateful for this leadership award, said Dr. Hirschhorn.

The McKusick Award honors the combined contributions of Drs. Hirschhorn, who have been members of ASHG for over 40 years and have served in many society leadership positions, including president and member on the Board of Directors and Editorial Board.

Dr. Kurt Hirschhorn has received multiple awards in genetics and pediatrics, including ASHGs Allan Award and Excellence in Education Award, the March of Dimes Colonel Sanders Lifetime Achievement award and the Howland Award in Pediatrics. At Mount Sinai School of Medicine, he was the Chief of one of the first Divisions of Genetics for eight years and Chair of Pediatrics for 18 years. In addition to serving as a mentor to numerous trainees and faculty, he helped establish the first Masters level genetic counseling program at Sarah Lawrence College.

His major scientific achievements include discovery, characterization and application of the mixed-lymphocyte reaction and the early and sustained use of cytogenetics to discover and describe multiple human chromosomal disorders including the Wolf-Hirschhorn syndrome, also called the 4p- syndrome.

In 2010, Rochelle Hirschhorn was honored with the NYU Langone Medical Centers Master Scientist Award. Dr. Hirschhorn, who was the centers Chief of the Division of Medical Genetics for 24 years, has been a leader and role model in the advancement of women in medicine and genetics. In 1986, she was the first woman elected to the Interurban Clinical Club, founded in 1905, and soon was elected president of the group.

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Mount Sinai Researcher Shares 2013 American Society of Human Genetics Leadership Award With Research Partner Wife

PUBLIC RELEASE DATE:

17-Oct-2013

Contact: Gail Pinder gpinder@faseb.org 301-634-7021 Federation of American Societies for Experimental Biology

Bethesda, MD FASEB MARC (Maximizing Access to Research Careers) Program has announced the travel award recipients for the 2013 American Society for Human Genetics (ASHG) annual meeting in Boston, MA from October 22-26, 2013. These awards are meant to promote the entry of students, postdoctorates and scientists from underrepresented groups into the mainstream of the basic science community and to encourage the participation of young scientists at the ASHG annual meeting.

Awards are given to poster/platform presenters and faculty mentors paired with the students/trainees they mentor. This year MARC conferred 21 awards totaling $38,850.

The FASEB MARC Program is funded by a grant from the National Institute of General Medical Sciences, National Institutes of Health. A primary goal of the MARC Program is to increase the number and competitiveness of underrepresented minorities engaged in biomedical and behavioral research.

POSTER/ORAL PRESENTERS (FASEB MARC PROGRAM)

Elinette Albino, Ponce School of Medicine [ASBMB member] Kinsley Belle, University of Miami, Miller School of Medicine [ASHG member] Randi Burns, University of Michigan at Ann Arbor Monique Courtenay, University of Miami [ASHG member] Michael Gonzalez, University of Miami, Miller School of Medicine [ASHG member] Wenndy Hernandez, University of Chicago James Hicks, University of Miami [ASHG member] Crystal Humphries, University of Miami [ASHG member] Catherine Igartua, University of Chicago Latifa Jackson, Drexel University [ASHG member] Janina Jeff, Ichan School of Medicine at Mount Sinai [ASHG member] Danjuma Quarless, University of California, San Diego [ASHG member] Nicole Restrepo, Vanderbilt University [ASHG member] Ronnie Sebro, University of California, San Francisco [ASHG member] Hira Shabbir, University of Florida Krystal Tsosie, Vanderbilt University [ASHG member] Virginia Ware, Northern Arizona University Marquitta White, Vanderbilt University [ASHG member]

FACULTY/MENTOR & STUDENTS/MENTEES (FASEB MARC PROGRAM)

Dr. Nadeem Fazal, Chicago State University [ASHG member] Osayi Ikponmwosa, Chicago State University Mohammed Diabor, Chicago State University

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MARC travel awards announced for the 2013 American Society for Human Genetics meeting

MONTREAL--(BUSINESS WIRE)--

Angiochem, a clinical stage biotechnology company developing drugs that are uniquely capable of crossing the blood-brain barrier (BBB), today announced that an abstract on its Angiopep-2 (An2) conjugate technology has been selected for presentation at the American Society of Human Genetics (ASHG) 2013 Annual Meeting being held October 22-26, 2013 in Boston, Massachusetts.

These data demonstrate the ability of Angiochem technology to create proteins that can access the CNS; a key attribute for enzyme replacement therapy, commented Jean E. Lachowicz, Ph.D., Chief Scientific Officer of Angiochem Inc. We are applying this approach to an enzyme associated with mucopolysaccharidosis to create a brain-penetrant enzyme replacement therapy that will address neurological symptoms.

Poster Presentation:

(Abstract/Poster #2288F): Friday, October 25, 2013, 11:30-12:30 p.m. ET, Fusion with Angiopep-2 to create proteins that cross the blood-brain barrier and are taken up into cells, Jean E. Lachowicz, Ph.D., Therapy for Genetic Disorders Session, Convention Center, Exhibit Hall, Level 1.

About Angiochem

Angiochem is a clinical-stage biotechnology company discovering and developing new breakthrough peptide drug conjugates that leverage the LRP-1 mediated pathwayto cross the BBB to treat neurological diseases. These new compounds have the potential to address significant medical needs, many of which are insurmountable due to the fundamental physiological challenge posed by the BBB.

Angiochem is developing a focused product pipeline, including small molecules and biologics, for the potential treatment of a wide range of CNS diseases, including primary brain cancer, brain metastases, lysosomal storage diseases and pain. Founded in 2003, Angiochem maintains headquarters in Montreal, Canada. For additional information about the Company, please visit http://www.angiochem.com.

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Angiochem to Present at the American Society of Human Genetics 2013 Annual Meeting

PRINCETON, NJ and REHOVOT, ISRAEL--(Marketwired - Oct 17, 2013) - Rosetta Genomics Ltd. (NASDAQ: ROSG), a leading developer and provider of microRNA-based molecular diagnostics, announces that the Company's Cancer Origin Test will be highlighted in a poster presentation at the upcoming American Society of Human Genetics Annual Meeting 2013 (ASHG 2013) taking place October 22-26 at the Boston Convention and Exhibition Center in Boston, Mass.

Poster presenters will be available October 23rd from 10:30 a.m. to 12:00 p.m., and posters will be available for viewing beginning October 23rd at 10:30 a.m. until October 25th at 2:00 p.m. The following poster highlighting Rosetta Genomics' Cancer Origin Test will be presented at ASHG 2013:

Prediction of the risk of cancer in families, genetic testing, counseling and other options are heavily dependent upon accurate diagnosis of cancers that have occurred in other family members. When a deceased relative's medical records are incomplete or inaccurate in any way, appropriate counseling and decision-making is impaired. Relatives of patients who die from cancers of unknown or uncertain primary (CUP), which occurs in over 3-5% of all cancers, are particularly challenged in accurately assessing their cancer risk.

Molecular profiling with Rosetta's microRNA-based Cancer Origin Test has been shown to effectively identify the underlying tumor type in CUP cases, and allows for more accurate identification of potentially unrecognized genetic risks, or the correct assessment when risk might otherwise have been over-estimated by the family or their genetic counselors. As microRNA has been shown to be particularly stable in FFPE preserved tumor blocks for over 10-years, archival material analysis of a deceased relative's cancer when CUP or uncertain results confounded a pedigree is now possible with this assay.

The poster presentation highlights a study outlining the findings in a population of deceased CUP patients. The study demonstrated the frequency with which the results might impact the cancer risk assessment in their family if this test were not utilized to resolve the uncertainty of the actual cancer diagnosis of the deceased CUP patient. The study concluded that, "microRNA profiling in CUP patients has an incrementally important clinical utility in uncovering previously unknown or inaccurate genetic risks associated with specific cancer diagnoses in at least one-third of cases, potentially directing specific genetic testing for relatives."

"The Cancer Origin Test may be of importance in clarifying the disease pedigree for families with a history of CUP seeking information on their genetic risk of cancer. Our findings showed a high frequency of breast, ovarian and colon cancers, including significant numbers of male breast cancers in the CUP population, which clearly indicates that pedigrees with unresolved diagnoses from CUP cases could be highly informative if the Cancer Origin Test is applied," said Dr. Wassman. "In addition, our identification of exceedingly rare cancers with high genetic risks in families further highlights the value of this testing."

About the American Society of Human Genetics Annual MeetingThe ASHG Annual Meeting is the largest human genetics meeting and exposition in the world. ASHG 213 is expected to attract over 6,500 scientific attendees, plus nearly 200 exhibiting companies. ASHG members and leading scientists from around the world are selected to present their research findings at invited, platform, and poster sessions. Abstracts of work submitted for presentation at the Annual Meeting are published online. ASHG's Annual Meeting also features a trade show floor that offers attendees the opportunity to view state-of-the-art medical and laboratory equipment, products, services, and computer software designed to enhance human genetics research, teaching, and consultation.

About Rosetta Cancer Testing Services Rosetta Cancer Tests are a series of microRNA-based diagnostic testing services offered by Rosetta Genomics. The Rosetta Cancer Origin Test can accurately identify the primary tumor type in primary and metastatic cancer including cancer of unknown or uncertain primary (CUP). The Rosetta Mesothelioma Test diagnoses mesothelioma, a cancer connected to asbestos exposure. The Rosetta Lung Cancer Test accurately identifies the four main subtypes of lung cancer using small amounts of tumor cells. The Rosetta Kidney Cancer Test accurately classifies the four most common kidney tumors: clear cell renal cell carcinoma (RCC), papillary RCC, chromophobe RCC and the benign oncocytoma. Rosetta's assays are designed to provide objective diagnostic data; it is the treating physician's responsibility to diagnose and administer the appropriate treatment. In the U.S. alone, Rosetta Genomics estimates that 200,000 patients a year may benefit from the Cancer Origin Test, 60,000 from the Mesothelioma Test, 65,000 from the Kidney Cancer Test and 226,000 patients from the Lung Cancer Test. The Company's assays are offered directly by Rosetta Genomics in the U.S., and through distributors around the world. For more information, please visit http://www.rosettagenomics.com. Parties interested in ordering the test can contact Rosetta Genomics at (215) 382-9000 ext. 309.

About Rosetta GenomicsRosetta develops and commercializes a full range of microRNA-based molecular diagnostics. Founded in 2000, Rosetta's integrative research platform combining bioinformatics and state-of-the-art laboratory processes has led to the discovery of hundreds of biologically validated novel human microRNAs. Building on its strong patent position and proprietary platform technologies, Rosetta is working on the application of these technologies in the development and commercialization of a full range of microRNA-based diagnostic tools. Rosetta's cancer testing services are commercially available through its Philadelphia-based CAP-accredited, CLIA-certified lab. Frost & Sullivan recognized Rosetta Genomics with the 2012 North American Next Generation Diagnostics Entrepreneurial Company of the Year Award.

Forward-Looking Statement DisclaimerVarious statements in this release concerning Rosetta's future expectations, plans and prospects, including without limitation, Rosetta's Cancer of Origin Test, the Cancer Origin Test improving the ability of physicians to accurately diagnose CUP, the Cancer Origin Test's ability to help physicians to optimize treatment, Rosetta's development or commercialization of molecular diagnostics, the market acceptance of Rosetta's cancer testing services, particularly the Cancer Origin Test, the clinical utility of microRNA profiling in CUP patients in uncovering previously unknown or inaccurate genetic risks associated with specific cancer, the possible importance of the Cancer Origin Test in clarifying the pedigree in families seeking information on their genetic risk of cancer and the value of such testing constitute forward-looking statements for the purposes of the safe harbor provisions under The Private Securities Litigation Reform Act of 1995. Actual results may differ materially from those indicated by these forward-looking statements as a result of various important factors, including those risks more fully discussed in the "Risk Factors" section of Rosetta's Annual Report on Form 20-F for the year ended December 31, 2012 as filed with the SEC. In addition, any forward-looking statements represent Rosetta's views only as of the date of this release and should not be relied upon as representing its views as of any subsequent date. Rosetta does not assume any obligation to update any forward-looking statements unless required by law.

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Rosetta Genomics' Announces Poster Presentation at the American Society of Human Genetics Annual Meeting 2013

Where I #39;ve been and SK195 Human Genetics and health issues review
So this is where I #39;ve been for a while. This is a review of the Open University module SK195 Human Genetics and heath issues review. Some of the information ...

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Where I've been and SK195 Human Genetics and health issues review - Video

MOUNTAIN VIEW, Calif.--(BUSINESS WIRE)--

23andMe, the leading personal genetics company, is working with Udacity, a Silicon Valley-based education start-up, to create a Massive Open Online Course (MOOC) on human genetics. Tales from the Genome will provide an accessible introduction to genetic concepts and technology for just about anyone. The course is designed to be particularly helpful for high school, college and medical students, as well as health care professionals and life-long learners. Course participants can choose to complete the entire course or just the individual lessons on the topics they find most interesting. Tales from the Genome also incorporates personal and engaging perspectives from people living with a variety of genetic traits, from color blindness to lactose intolerance.

Tales from the Genome covers the fundamental principles of inheritance, gene structure and expression, mutation and variation, development of simple and complex biological traits, human ancestry and evolution, and the acquisition and interpretation of personal genetic information. By the end of the course, students will have an enhanced understanding of both the science of genetics and the various ways genetics informs their personal health.

Genetics is so much more than what many students experience in a traditional classroom setting, said Dr. Matthew Cook, the main instructor for the course. It should really be about the stories our genomes can tell, all the biological secrets wound up and packaged into efficient information storage units called chromosomes.

Dr. Cook earned his Ph.D. at Duke University and completed training as a post-doctoral scholar at the University of California, San Francisco. Dr. Cook then joined the content development team at Udacity to share his passion for genetics with the world.

As individuals are becoming more actively involved in their health care and more physicians incorporate personalized medicine into their practice, genetic information is becoming a fundamental element of basic health care, said Dr. Uta Francke, senior medical director at 23andMe and co-instructor of Tales from the Genome. As a result, genetics education has never been more important, particularly for individuals seeking the best possible care for themselves and their families.

Dr. Francke is an emeritus professor of genetics and pediatrics at Stanford University, where she taught molecular and clinical genetics. Tales from the Genome is also co-instructed by 23andMe Senior Director of Research, Dr. Joanna Mountain. Dr. Mountain previously served as a faculty member at Stanford University in the anthropological sciences and genetics departments.

Tales from the Genome will be available to the public as of September 30, 2013 on Udacity.

About 23andMe

23andMe, Inc. is the leading personal genetics company dedicated to helping individuals understand their own genetic information through DNA analysis technologies and web-based interactive tools. The company's Personal Genome Service enables individuals to gain deeper insights into their ancestry and inherited traits. The vision for 23andMe is to personalize healthcare by making and supporting meaningful discoveries through genetic research. 23andMe, Inc., was founded in 2006, and the company is advised by a group of renowned experts in the fields of human genetics, bioinformatics and computer science. More information is available at http://www.23andMe.com.

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23andMe and Udacity Launch Introductory Human Genetics Course

BIOL 10700 Human Genetics Introductory Video

By: Caitlin Doolittle

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BIOL 10700 Human Genetics Introductory Video - Video

Expert Panel Debates the Manipulation of Human Genetics
Anchor Elaine Reyes moderates a discussion between Marcy Darnovsky, Executive Director at the Center for Genetics and Society, and David King, Director at Human Genetics Alert, on the manipulation...

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Expert Panel Debates the Manipulation of Human Genetics - Video

Mission House Creative: Duke Center for Human Genetics
The Story of Mission House Creative #39;s Partnership with Duke Center for Human Genetics.

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Mission House Creative: Duke Center for Human Genetics - Video

Human Genetics - Blood Type Video
I had some trouble with iMovie but the articles referenced are as follows: cassiopaea.org https://cassiopaea.org/forum/index.ph... http://en.wikipedia.org/wi...

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Human Genetics - Blood Type Video - Video

MENLO PARK, Calif.--(BUSINESS WIRE)--

Personalis, Inc. today announced that it will be exhibiting at the European Society of Human Genetics Conference in Paris, France beginning Sunday, June 9, 2013. Personalis will launch its Genome Services for Research and Clinical samples, focusing on accuracy in sequencing, analysis, and interpretation of human genomes to the European market.

Personalis Genome Services include our Accuracy and Content Enhanced (ACE) Exome technology. Using additional custom targeted capture, we aim to finish genes in the medical exome and add medically interpretable content outside the exons. This has been shown to benefit work in medical genetics, pediatrics, cardiology, neurology, psychiatry, pharmacogenomics, and other areas of medicine.

Clinical quality genome interpretation also requires accurate and comprehensive databases of genetic variation. Personalis has the largest and most comprehensive manually-curated database in the world linking genetic variation with disease. We have also signed an exclusive license for commercialization of PharmGKB, the premier database linking genetic variation with drug metabolism and adverse events. Personalis also annotates genomes with information from over 30 databases. When combined with Personalis ACE (Accuracy and Content Enhanced) Technology for exome sequencing and powerful variant calling algorithms, researchers and clinicians are able to rapidly obtain the most comprehensive sequence analysis available. Personalis CEO, John West, stated We are pleased to extend this offering to the European community and are committed to expanding our global footprint to enable researchers and clinicians worldwide to take advantage of our products.

About Personalis

Personalis provides researchers and clinicians accurate DNA sequencing and interpretation of human genomes. Our ACE (Accuracy and Content Enhanced) Technology can supplement a standard exome or genome, substantially increasing its medically-relevant coverage and accuracy. Personalis builds on that with innovativealgorithms and proprietary databases for alignment, variant calling, annotation, and analysis. With this combination, we provide genomic data and interpretation of the highest accuracy.

Personalis has an exceptional team of scientific, medical and industry experts. Our R&D team brings directly relevant commercial experience from seven different DNA sequencing companies and scientific & medical expertise from the top universities in the world. This group has been deeply involved in many of the advances of recent years, and has a long track record of peer reviewed publications. We see enormous potential in human genome sequencings next big step: accurate interpretation.

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Personalis Announces Participation in the European Society of Human Genetics Conference

Public release date: 16-May-2013 [ | E-mail | Share ]

Contact: Mary Rice mary.rice@riceconseil.eu European Society of Human Genetics

The use of genome-wide analysis (GWA), where the entirety of an individual's DNA is examined to look for the genomic mutations or variants which can cause health problems is a massively useful technology for diagnosing disease. However, it can also pose major ethical problems if used incorrectly, say new recommendations from the European Society of Human Genetics (ESHG) published on line today (16 May 2013) in the European Journal of Human Genetics.

Many services based on whole genome and on exome* sequencing and analysis are now available to patients at an affordable price, and this raises the question of how to ensure that they are provided appropriately. "Such sequencing generates huge amounts of information that needs to be processed, analysed, and stored in a responsible manner", said Professor Martina Cornel, chair of the Professional and Public Policy Committee of ESHG. "It is preferable to use sequencing or analysis specifically targeted at a particular health problem to avoid unsolicited findings, or those that cannot yet be interpreted, which can cause considerable anxiety to patients and their families. Clear guidance on how to deal with such findings is needed."

Targeted analysis will limit such unsolicited findings, says the ESHG, and this is particularly important at present when there are only a limited number of clinicians properly trained to inform patients on the significance of the results of GWAs and exome sequencing. While the Society believes that the duty to inform patients may outweigh their right not to know in some circumstances, the new recommendations propose that analysis should be limited to genome regions linked to the clinical problem for which the analysis is being undertaken.

"We are opposed to the type of opportunistic screening that throws up large numbers of incidental results. If such results reveal a treatable or preventable condition, then clearly it is advantageous to patients to be informed about them.

But in the majority of cases it is very difficult to interpret exactly what such incidental results mean for patients and their families. The evidence currently available often comes from families with affected persons, but it is lacking on the interpretation of results in other situations. Furthermore, in genetics healthcare, autonomy is considered very important: patients should be allowed consent on what would be screened for and reported to them. We believe that it is premature today to look for such results other than the clinical problem in circumstances where there are no prior clinical indications or family history ", said Professor Cornel.

"A sustained effort to educate clinicians in genetics is needed in order to be able to cope with advances in analysis. We also believe that the Society has an important role to play in raising awareness of genetics among the general public. Only with the benefit of a general increase in genetic literacy can society become properly involved in the debate over who has the right to know what and in which circumstances," she said.

Professor GertJan van Ommen, Editor in Chief of the European Journal of Human Genetics, said: "The importance of this issue has been underlined by the US Government's Bioethics Advisory Panel's plans to report on how incidental findings encountered in genomics research should be handled. I believe that ESHG has made an important contribution to the debate, which will be further discussed at their conference in Paris in June."

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European Society of Human Genetics urges caution over use of new genetic sequencing techniques

Human Genetics Project 2013 Explanation behind Starcraft 2 #39;s Marine
This is my project for BIOL1309 These claims are all theory, not actual fact.

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Human Genetics Project 2013 Explanation behind Starcraft 2's Marine - Video

VERTEBRAL SUBLUXATIONS AND HUMAN GENETICS
Each of the 100 trillion cells in the human body (with the exception of red blood cells) contains the entire human genome mdash;all of the information necessary to build a human being. This information...

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VERTEBRAL SUBLUXATIONS AND HUMAN GENETICS - Video

Supreme Court Tackles Case of Patent Law, Human Genetics
The Supreme Court heard arguments in a case on whether a biotech company can patent a gene associated with cancer. Jeffrey Brown gets details from National L...

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Supreme Court Tackles Case of Patent Law, Human Genetics - Video

Human genetics project 2013, Andy Tran Yasmin Ghagariyeh
Yasmin.

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Human genetics project 2013, Andy Tran

TCD Human Genetics 2012 - Genetic Disease
An introduction to Genetic Disease and the work being done in the Smurfitt Institute of Genetics in Trinity College Dublin.

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TCD Human Genetics 2012 - Genetic Disease - Video

These are the selected highlights for the January 2013 issue of the Genetics Society of America's journal, GENETICS. The January issue is available online at http://www.genetics.org/content/current. Please credit GENETICS, Vol. 193, January 2013, Copyright (c) 2013.

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Genetics Society of America's GENETICS Journal Highlights for January 2013