Monthly Archives: October 2019

DUBLIN--(BUSINESS WIRE)--The "Global NGS Sample Preparation Market - Forecast to 2025" report has been added to ResearchAndMarkets.com's offering.

The NGS sample preparation industry analysis projects the market to grow at a significant CAGR of 15.54% during the forecast period, 2019-2025. The NGS sample preparation market generated $1,140.0 million in revenue in 2018, in terms of value.

Key Questions Answered in this Report:

The NGS sample preparation market growth has been primarily attributed to the major drivers in this market such as the rising prevalence of genetic disorders and infectious diseases, increasing direct-to-consumer genetic testing, and increasing research in the field of genomics. However, there are significant challenges that are restraining market growth. These challenges include cost constraints pertaining to automated NGS sample preparation affecting adoption, lack of high complexity genetic testing centers, and regulatory uncertainty.

Scope of the Market Intelligence on NGS Sample Preparation Market

The NGS sample preparation research provides a holistic view of the market in terms of various factors influencing it, including product optimization, and technological advancements.

The scope of this report is centered upon conducting a detailed study of the products and manufacturers allied with the market. In addition, the study also includes exhaustive information on the unmet needs, perception of the new products, competitive landscape, market share of leading manufacturers, the growth potential of each underlying sub-segment, and company, as well as other vital information with respect to global NGS sample preparation market.

Key Topics Covered:

1 Research Scope and Methodology

1.1 Scope of the Study

1.2 Research Methodology

1.3 Data Sources

1.4 Assumptions and Limitations

1.5 Data and Prediction Modelling

2 Market Overview

2.1 The Basic NGS Workflow

2.2 Global NGS Sample Preparation Market Scenario

3 Market Dynamics

3.1 Drivers

3.1.1 Short Term Driver

3.1.1.1 Rising Prevalence of Genetic Disorders

3.1.2 Current Drivers

3.1.2.1 Increasing Direct-to-Consumer Genetic Testing

3.1.2.2 Rising Prevalence of Infectious Diseases

3.1.3 Long Term Driver

3.1.3.1 Increasing Research Funding in the Field of Genomics

3.2 Restraints

3.2.1 Short Term Restraint

3.2.1.1 High Cost of Automated NGS Sample Preparation Instruments

3.2.2 Current Restraint

3.2.2.1 Lack of Advanced Genetic Testing Centers

3.2.3 Long Term Restraint

3.2.3.1 Stringent Regulatory Standards

3.3 Market Opportunities

3.3.1 Adoption of Automated NGS Sample Preparation in the Emerging Markets

3.3.2 Technological Advancements in NGS Sample Preparation

3.3.3 Opportunity (by Product)

3.3.3.1 Workstations

3.3.3.2 Consumables

3.3.4 Opportunity (by Application)

3.3.4.1 DNA Sequencing

3.3.4.2 Metagenomics

3.3.5 Opportunity (by Region)

3.3.5.1 North America

3.3.5.2 APAC

4 Automated NGS Sample Preparation Market: Industry Insights

4.1 Key Developments

4.1.1 Product Launch

4.1.2 Collaborations, Partnerships and Agreements:

4.1.3 Product Enhancements

4.1.4 Acquisitions

4.1.5 Business Expansions

4.2 Industry Trends

4.2.1 Preference for Automated NGS Sample Preparation Workstations Integrated with QC (Quality Control)

4.2.2 Growing Trend for the Preference of Customized Automated NGS Sample Preparation Platform

5 Next-Generation Sequencing Sample Preparation Market, End-User & Pricing Analysis

5.1 Satisfaction Level of Different Instruments (by Brand)

5.2 Pricing Analysis of Preferred Products- Step Wise (Sample Quantification, Library Preparation, Target Enrichment, Library Quantification)

5.3 Pricing Analysis - Accessories and Components

5.4 Pricing Analysis - Consumables

6 NGS Sample Preparation Market (by Product)

6.1 Automated Workstations

6.1.1 Open Systems

6.1.2 Closed Systems

6.2 Standalone Automation Instruments

6.2.1 Fragment Analyzer

6.2.2 Ultrasonicator/ Sonicator

6.2.3 DNA/RNA Shearing Instruments

6.2.4 Template Preparation Instruments

6.2.5 DNA Selection Instruments

6.2.6 Nucleic Acid Extraction/Isolation System

6.3 Consumables

6.3.1 Sample Extraction and Isolation Kits

6.3.2 Sample Purification Kits

6.3.3 Library Preparation Kits

6.3.3.1 DNA Library Preparation Kits

6.3.3.2 RNA Library Preparation Kits

6.3.3.3 FFPE DNA Kits

6.3.3.4 ChIP-Seq Library Preparation

6.3.3.5 Library Quantitation

6.3.3.6 Library Amplification

6.3.3.7 Library Preparation Accessories

6.3.4 Clean-up and Selection Kits

6.3.5 Target Enrichment Kits

6.3.6 Microbiome DNA Enrichment

6.3.7 Other Consumables

6.4 Accessories and Components

7 NGS Sample Preparation Market (by Workflow)

7.1 Sample Extraction/Isolation

7.2 Sample Quantification

7.3 Quality Control

7.4 Fragmentation

7.5 Library preparation

7.6 Target Enrichment

7.7 Library Quantification

7.8 Pooling

8 NGS Sample Preparation Market (by Therapeutic Area)

8.1 Oncology

8.2 Human Genetics/Population Genetics

8.3 Prenatal/Neonatal

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Global NGS Sample Preparation Market to 2025: Focus on Product, Workflow, Therapy Area, Application, End User - ResearchAndMarkets.com - Business Wire

NEW YORK, Oct. 15, 2019 /PRNewswire/ -- Gencove, the leading low-pass genome sequencing technology provider, announced today the launch of the first enterprise-ready low-pass sequencing analysis platform. The new cloud-based solution for imputation and downstream analytics of low-pass sequencing data is an important step forward in expanding the access to this technology.

Gencove's low-pass sequencing is a high-throughput, cost-efficient solution for large scale genomic applications. For the last two years, Gencove has successfully helped organizations across industries from academia to agriculture switch from genotyping arrays to sequencing technologies.

The new platform supports human, agricultural, companion animal and model organism applications. Gencove's SaaS also provides additional analysis on top of low-pass data, like polygenic risk score calculations, ancestry/breed analysis and CNV analysis. This platform is available via web app at gencove.com, or can be interacted with in an automated manner via the API and command line interface.

Gencove's team will be demonstrating the software at the American Society of Human Genetics (ASHG) conference in Houston, Texas, from October 16th-18th, at booth #1413.

About Gencove:Gencove is a spin-out of the New York Genome Center dedicated to making genomic data more accessible and interpretable through the development of molecular and computational tools. Gencove's flagship product is its low-pass genome sequencing platform; the company operates a laboratory in New York and offers both low-pass sequencing and analytics software as a service, with customers that include top academic institutions, biotechnology and pharmaceutical companies. More information is available at http://www.gencove.com.

Media Contact:Maria Vazquez646-583-3246maria.vazquez@gencove.com

View original content:http://www.prnewswire.com/news-releases/gencove-launches-the-first-enterprise-ready-low-pass-sequencing-imputation-and-analysis-software-as-a-service-300938283.html

SOURCE Gencove

Link:
Gencove launches the first enterprise-ready low-pass sequencing imputation and analysis software as a service - BioSpace

SAN DIEGO, Oct. 16, 2019 (GLOBE NEWSWIRE) -- Bionano Genomics, Inc. (NASDAQ: BNGO), a life sciences instrumentation company that develops and markets the Saphyr system, a genome imaging platform for ultra-sensitive and ultra-specific genome-wide structural variation detection, today announced that leading organizations, including PerkinElmer Genomics and the University of Iowa, have adopted Saphyr for use in their clinical genomics laboratories. PerkinElmer Genomics and the University of Iowa have developed assays based on the Bionano optical mapping technology to expand their comprehensive suite of genetic tests assessing disease-associated chromosomal abnormalities. Their lead indication is Facioscapulohumeral Muscular Dystrophy (FSHD).

FSHD is one of the most prevalent forms of muscular dystrophy and affects approximately 1 in 10,000 individuals. It is caused by changes in the number of repeats in a section of chromosome 4. To correctly diagnose FSHD, an exact count of the repeat number is necessary. To date, molecular diagnoses for FSHD are generated using outdated Southern Blot techniques, which are imprecise, labor intensive and involve radioactive labeling methods which are being phased out of laboratory use for safety reasons. In contrast, the assays developed by PerkinElmer Genomics and the University of Iowawith the Bionano EnFocus FSHD Analysis tool are reproducible, safe, fast, and automated with minimal hands-on time. These assays provide an exact repeat number for the pathogenic and non-pathogenic variants, give a high-resolution view of the repeat regions and have a high sensitivity to mosaicism.

Jamshid Arjomand, Ph.D., CSO of the FSHD Society, the leading research-focused patient organization forFSHD, said, The FSHD community has been waiting years for an accessible and robust assay like this. The lack of timely and affordable genetic testing has been a major hurdle for the FSHD community. Thousands of patients have never received a molecular diagnosis, which limits successful recruitment into the increasing number of clinical research and clinical trial studies for this devastating disease. We are delighted that Bionanos Saphyr system enables a more precise and higher throughput method for FSHD genetic testing and are grateful to diagnostic groups and companies that are making genetic testing more accessible to our families.

We are pleased to be the first US laboratory to develop and validate an assay based on the Bionano Saphyr system in a clinical setting under CLIA/CAP guidelines" stated Madhuri Hegde, Ph.D., FACMG, Vice President and CSO of PerkinElmer Genomics. "We are committed to helping patients and families that need genetic testing and are excited about the strong clinical utility of this assay for the molecular assessment of FSHD patients."

Erik Holmlin, Ph.D., CEO of Bionano, commented, We have always believed that Bionanos unique ability to image long, intact DNA molecules could enable the Saphyr system users to develop assays in a clinical setting to modernize and streamline the practice of cytogenetics. Our teams have worked tirelessly to improve the speed, quality, throughput, and robustness of the optical mapping application of genome imaging while simultaneously reducing cost, assay complexity and data analysis. We believe Saphyr is ready to be adopted for assay development in a routine clinical workflow, and we are thrilled that PerkinElmer Genomics and the University of Iowa are taking the lead in making the Saphyr system a tool for next-generation cytogenomics, with many other academic, CRO and reference laboratories expected to follow. We believe that FSHD is just the start of a wide array of clinical genetics assays that labs will develop with our technology.

Results of the PerkinElmer Genomics FSHD evaluation study using the Saphyr system will be presented by Alka Chaubey, Ph.D., FACMG, Head of Cytogenomics and Laboratory Director at PerkinElmer Genomics at the Bionano Genomics ASHG exhibitor workshop on Thursday, Oct. 17, 2019 from 12:45 pm 2:00 pm at the Houston Marriott Marquis. More information about the workshop can be found online, and a recording will be made available on Bionanos website.

Bionano will showcase the Bionano EnFocus FSHD Analysis tool for fast, streamlinedbioinformaticsassessment of theFSHD locusfrom genome-wide optical mapping data at booth #527 during the annualAmerican Society of Human Genetics Annual Meeting, Oct. 15-19, 2019.

About Bionano Genomics

Bionano is a life sciences instrumentation company in the genome analysis space. Bionano develops and markets the Saphyr system, a platform for ultra-sensitive and ultra-specific structural variation detection that enables researchers and clinicians to accelerate the search for new diagnostics and therapeutic targets andto establish digital cytogenetics, which is designed to be a more systematic, streamlined and industrialized form of traditional cytogenetics. The Saphyr system comprises an instrument, chip consumables, reagents and a suite of data analysis tools. More information about Bionano Genomics is available at http://www.bionanogenomics.com.

Forward-Looking Statements

This press release contains forward-looking statements within the meaning of the Private Securities Litigation Reform Act of 1995. Words such as may, will, expect, plan, anticipate, estimate, intend and similar expressions (as well as other words or expressions referencing future events, conditions or circumstances) convey uncertainty of future events or outcomes and are intended to identify these forward-looking statements. Forward-looking statements include statements regarding our intentions, beliefs, projections, outlook, analyses or current expectations concerning, including, among other things: conclusions as to Saphyrs potential as a powerful new tool in cytogenetics; Saphyrs potential contribution to improvements in traditional cytogenetics; the University of Iowas or PerkinElmer Genomics plans to develop additional assays using our technology; our beliefs regarding the Saphyr systems readiness for clinical adoption andour expectations regarding adoption by other academic, CRO and reference laboratories using our technology; PerkinElmer Genomics commercial plans; plans of other Saphyr system users to implement their own assays for FSHD and other genetic disorders; and certain planned presentations by PerkinElmer Genomics and us. Each of these forward-looking statements involves risks and uncertainties. Actual results or developments may differ materially from those projected or implied in these forward-looking statements. Factors that may cause such a difference include the risks that our sales, revenue, expense and other financial guidance may not be as expected, as well as risks and uncertainties associated with general market conditions; changes in the competitive landscape and the introduction of competitive products; changes in our strategic and commercial plans; our ability to obtain sufficient financing to fund our strategic plans and commercialization efforts; the ability of key clinical studies to demonstrate the effectiveness of our products; the loss of key members of management and our commercial team; and the risks and uncertainties associated with our business and financial condition in general, including the risks and uncertainties described in our filings with the Securities and Exchange Commission, including, without limitation, our Annual Report on Form 10-K for the year ended December 31, 2018 and in other filings subsequently made by us with the Securities and Exchange Commission. All forward-looking statements contained in this press release speak only as of the date on which they were made and are based on management's assumptions and estimates as of such date. We do not undertake any obligation to publicly update any forward-looking statements, whether as a result of the receipt of new information, the occurrence of future events or otherwise.

Contacts

Company Contact:Mike Ward, CFOBionano Genomics, Inc.+1 (858) 888-7600mward@bionanogenomics.com

Investor Relations Contact:Ashley R. RobinsonLifeSci Advisors, LLC+1 (617)775-5956arr@lifesciadvisors.com

Media Contact:Kirsten ThomasThe Ruth Group+1 (508) 280-6592kthomas@theruthgroup.com

See the article here:
Bionano Genomics Announces Adoption of Its Saphyr System by Clinical Cytogenetics Groups in Academia and Industry to Replace Traditional Methods for...

Few areas of science have seen such a dramatic development in the last decade as genomics. It is now possible to read the genomes of millions of people in so-called genome-wide association studies. These studies have identified thousands of small differences in our genome that are linked to diseases, such as cancer, heart disease and mental health.

Most of these genetic studies use data from white people over 78% of participants are of European descent. This doesnt mean that they represent Europe. In fact, only three nationalities make up most of the participants: the US, UK, and Iceland. Even though the UK and the US have very diverse populations, their non-white citizens have rarely been included in genetic research.

In recent years, efforts to collect multi-ethnic data have increased. One example is the UK Biobank, a collection of data from half a million British people accessible to any bona fide researcher. It includes some 35,000 DNA samples from people who are either non-European or mixed-race. Yet 92% of research papers on UK Biobank only used the data from the European-descent samples. So collecting data doesnt automatically solve the problem of non-white representation in research.

The under-representation of non-European groups is problematic for scientific and ethical reasons. The effects of gene variants that are present only in the unstudied groups remain unknown, which means important clues about the causes of diseases might be missed. Such undiscovered genes would not be included when testing for genetic diseases. So a person carrying one of them could wrongly get a negative genetic test result and might be told that they are not at increased risk of developing the disease.

Read more: How the genomics health revolution is failing ethnic minorities

Our recent work also shows that existing genetic findings might not apply equally to non-European populations. We found that some gene variants predicting high cholesterol in white populations do not lead to the same heart problems in people from rural Uganda. These findings should serve as a major warning to the field of genetics one cannot blindly apply findings from ancestrally European groups to everyone else.

It is important to support the global application of research because scientists have a moral responsibility to develop science for the benefit of the whole of humanity, not restricted by ethnic, cultural, economic or educational boundaries. Some 80% of the worlds population live in low and middle-income countries where healthcare and research are constrained by limited financial and human resources. We should not overlook this part of the world.

Studying different populations has advanced the medical field for everyones benefit. For example, the first disease gene mapped in humans was the gene for Huntingtons disease in 1983, identified through examining a large population of patients in villages surrounding Lake Maracaibo in Venezuela. The area was found to have the largest concentration of Huntingtons disease sufferers in the world, which helped them to find the gene.

More recently, a study of schizophrenia found new risk genes by using African and Latino American samples. Genetic risk scores based on results from these groups improved the ability to predict who would develop schizophrenia in all ethnic groups.

Read more: Decolonise science time to end another imperial era

Two things need to happen if we want to avoid increasing health disparities and instead share the medical benefits of genomic science across countries and ethnic groups. First, we need more large diverse studies. First steps in this direction are being taken by the Human Hereditary and Health in Africa Initiative. PAGE and All of Us are paving the way to recruit more diverse ethnic groups in the US, and East London Genes and Health focuses on people of South Asian origin in London.

And second, to make sure diverse ethnic data resources are widely used by researchers, the challenges of analysing genetic data from ancestrally diverse samples need to be addressed. While there are statistical solutions, more work is needed to make them easy to use and give clear guidance about the best approach.

Understanding how genetic risk and social inequality interact to influence disparities in disease risk and outcomes will be critical to improving public health for all.

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Most genetic studies use only white participants this will lead to greater health inequality - The Conversation UK

Stefan Mundlos, from the Max Planck Institute for Molecular Genetics, explains why there will be no designer babies in the near future

The first genetically modified humans were born in China in 2018. Now scientists and politicians in Russia are discussing whether using CRISPR/Cas9 to edit the genome of human embryos should be permitted. Stefan Mundlos, of the Max Planck Institute for Molecular Genetics in Berlin, is a member of the Genome Editing working group within the Ethics Council of the Max-Planck-Gesellschaft. The scientist, who himself uses CRISPR/Cas in his research, believes the concern over uncontrolled manipulation of the human genome is exaggerated.

Stefan Mundlos conducts research into rare bone diseases triggered by altered genes.

Edgar Zippel

Professor Mundlos, is the modification of human cells ethically justifiable?

It depends whether we are talking about normal body cells the somatic cells as they are known or about germline cells: sperm and egg cells. Somatic cells do not pass on their genetic material. If the genome of these cells is modified, the mutation disappears with the death of the patient. Such an intervention for the treatment of hereditary conditions or cancer is comparable to other cell-based therapies and therefore ethically unproblematic.

What about germline genome editing?

Thats completely different. The task of sperm and egg cells is to provide offspring. So they pass on their genetic material to the next generation. Manipulating the germline will therefore affect people who are not yet born at the time of modification, and cannot therefore give their consent. Thats ethically unacceptable. As genome editing is also not yet precise enough to avoid causing unintended mutations, the Max-Planck-Gesellschaft has spoken out against interventions in the germline in its discussion paper on genome editing.

How safe is the technique then?

CRISPR/Cas9 does work very precisely, and almost always cuts the DNA at a defined point. But despite that, mistakes can happen. Researchers are currently working on even more exact and less error-prone variations of the technique. In any case, we will always have to check whether modified cells do indeed only carry the desired mutations.

What significance will genome editing in humans have in the future?

The modification of normal body cells definitely has great medical potential. Conditions that are caused by one or a few mutations, such as some forms of leukaemia, could be treated this way. Im sure that well be able to treat the first patients using this method in just a few years.

On the other hand, I dont see any need for germline gene therapy, since there are equivalent and ethically less problematic alternatives. Using in-vitro fertilization and pre-implantation diagnostics, embryos free from adverse mutations can be selected for implantation.

Many people fear that genome editing will be used not just for treating illnesses, but also to optimize human characteristics. In the future, will we have particularly intelligent or tall designer babies thanks to this new technique?

I dont see any danger of this happening in the foreseeable future. Characteristics such as intelligence, height, or other characteristics we might wish to optimize, are influenced by many different genes. We are far from even understanding these gene networks, much less being able to manipulate them. Its quite possible that doing this will be completely impossible without triggering undesired effects elsewhere.

Some scientists are demanding a moratorium, a voluntary commitment to refrain from carrying out any modification of the human germline. What do you think about that?

I dont believe such a moratorium would be effective. The circle of scientists who can implement the technology is too wide for that. There will always be someone, somewhere in the world, who doesnt feel bound by the moratorium. And in any case, who would be responsible for policing it?

Is there no stopping the manipulation of the human genome then?

Im convinced that the lack of benefit will be much more effective than bans or voluntary commitments regarding germline gene therapy. Why would a pregnant woman have egg cells removed, if she can achieve the same result for her child by much less troublesome means? There would be no reason, and therefore no market for it.

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"There is no reason for germline therapy" - Mirage News

The sourdough tradition in Booker's family originated from his grandparents, Charles and Marianne. After moving to Alaska, they stumbled upon a sourdough baking tradition in 1898. Later, in 1921, when Charles moved to Fairbanks, Alaska, to become the president of the University of Alaska, a multitude of people had already tasted his sourdough. My mother was fed sourdough pancakes from their countertops during her teenage years and so was I, Boomer recounted.

I kept the stoneware crock I was given. ...The sourdough moved from Oregon to Seattle to Stanford then to North Carolina in 2004. It has been part of my life thanks to my precautionary effort. This culture also connects me to my family in the Pacific Northwest.

Booker began to study sourdough within the context of public history, a discipline that involves a set of perspectives and methods such as oral history, documentary filmmaking, archives management, and the interpretation of historical sites. He became fascinated by sourdoughs evolutionary roots. The culture doesnt stay the same as the bread moves and new bacteria and yeast are added, he said.

Ever since the genetics revolution, scientists have searched for biodiversity in exotic and isolated settings. The book Never Home Alone by applied ecologist Rob Dunn inspired Booker to probe for biodiversity in areas closer to home. Collaborating with Booker, Dunn conducted DNA testing on 569 samples of sourdough from the public and pursued other experiments using glass chromatographs and human testers. He observed that seventy percent of his samples had the same yeast due to artificial or natural selection. However, bacteria enormously varied.

From Dunns experiment, Booker concluded that public history had an effect on the heterogeneity of sourdough cultures. Sourdoughs were gardens of the past that linked us to a shared human story. We need them to conserve biological and cultural diversity, he said.

Below are a sampling of questions asked by members of the audience:

Aadhya Ramineni 23: Can you make gluten-free options? How has the food industry been affected by the gluten-free movement?

Booker: The sourdough has to undergo a long process of fermentation for it to break drown complex carbohydrates. There are also grains that are gluten free used to make sourdough. The food industry has actually benefited from the gluten free movement and has also started to pay more attention to sugar intolerance because of it.

Dan Strodel 20: You mentioned words such as culture and wealth to describe sourdough. Why was this language chosen?

Booker: Its etymology has to do with a sense of obligation people have for the tradition.

Jordan Khoriaty 21: Have selective pressures affected the ingredients of sourdough?

Booker: Many ingredients from the past are still being used in my family. Selective pressures are based on the resilience of the ingredients as well as the preferences of bakers and consumers overtime.

Booker's talk was among several that Bowdoin is hosting this month on environmental themes, including Wil Burns's talk on "Carbon Dioxide Removal Approaches: Their Potential Role in Addressing Climate;" aPhi Beta Kappa Lecture Series lecture "Climate Has Always Changed NaturallyHow Climate History Increases Concerns About Fossil-Fuel Burning;" and Arnold D. Kates Lecturer Gina McCarthy, who will speak on Oct. 25 about "The Future of the Planet: Climate Change & Environmental Protection."

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Gardens of the Past: The Sourdough Project - Bowdoin News

As word spread in 2018 about the birth of the world's first genetically altered babies, concerns over their future health mounted, with one study even raising the tragic possibility of shortened lives for the newborns. That risk now seems far less likely.

The alarming paper published in Nature last June has now been retracted by the authors themselves, who in the wake of criticism admit the way they searched for signs of a mutated gene in a data sample left too much room for doubt.

It's an important lesson not only in how science values self-correction, but how researchers need to tread lightly as they trawl through population-sized databanks in search of new discoveries.

"I feel I have a responsibility to put the record straight for the public," University of California population geneticist, Rasmus Nielsen, told Ewen Callaway at Nature.

The gene at the centre of the research serves as a template for a receptor on white blood cells.

Called CCR5, its usual job is to detect chemical signals used in immune responses. Unfortunately the deadly human immunodeficiency virus (HIV) evolved to use it as a window to gain entry into the cells.

Ever since the receptor's role in HIV infection was discovered, researchers have wondered just how important this receptor really is. Would we really miss it if it was gone?

Luckily an answer might be found among a percentage of people of European descent with a naturally occurring 'broken' version of CCR5 called delta-32. Those who carry a single copy of the delta-32 variant seem to be less susceptible to HIV than the rest of the population.

In November 2018 a Chinese geneticist named He Jiankui claimed to have used the engineering technology CRISPR-Cas 9 to alter the CCR5 genes in human embryos to artificially give them resistance.

He Jiankui's initial announcement suggested at least one of the twins was carrying two altered CCR5 genes. While they don't appear to match the delta-32 variants, it was enough to invite speculation over what kind of lives the children might have.

HIV resistance is no doubt a good thing in a world where the disease it causes is still destroying too many lives. But those benefits to any one individual might not be so great if a low quality CCR5 receptor raises the risks of developing other health problems.

Nielsen and his colleagues intended to answer this question by looking for similarly altered versions of the CCR5 gene in the UK Biobank's giant genetics database.

They estimated about 1 percent of the records in the database came from individuals with two delta-32 variant copies of the gene. Importantly, they calculated that this tiny fraction was 21 percent more likely to die before their 76th birthday, compared with those at least one 'normal' copy of the gene.

Thankfully, as happens in science, big claims often attract sceptical inquiries. Others quickly dived into the statistics in search of similar correlations using both the UK Biobank and other nation's datasets, coming up empty handed.

So where did Nielsen and his colleagues go wrong?

The cause of the discrepancy could lie in how the data was collected in the first place.

One way to work out whether a person has a specific gene is to simply use a template that sticks to a target sequence. These probes don't always work perfectly, meaning some people will incorrectly appear as negative in the database.

By potentially undercounting the number of people with the CCR5 delta-32 receptor, Nielsen risked masking the true impact of the mutation, making it look like there is a difference in mortality statistics. Which is why he asked for the paper to be retracted.

For researchers, huge banks of genetic and medical data collected from across a population provide the necessary quantities of information needed to spot subtle patterns that demarcate healthy from unhealthy bodies.

Yet as potentially useful as those statistics are, there's dangers in forgetting they come with plenty of assumptions.

You can see the now-retracted paper here.

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Researchers Admit They Were Wrong to Predict Early Death of The Famed CRISPR Babies - ScienceAlert

(Mastermind) will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context.

HOUSTON (PRWEB) October 15, 2019

Genomenon announced today at the American Society of Human Genetics Annual Meeting (ASHG) a partnership with SOPHiA GENETICS that includes incorporating the Mastermind Genomic Search Engine into the SOPHiA Platform and the Alamut Suite. The partnership puts the most up-to-date genomic research at the fingertips of clinical researchers performing genomic analysis worldwide.

The SOPHiA Platform is the technology of choice for streamlined Data-Driven Medicine, including clinical-grade genomic analysis, interpretation, and reporting. SOPHiA has been adopted by 1,000 healthcare institutions to date, and analyzed more than 420,000 genomic profiles - 16,000 new profiles processed each month. The Alamut Suite powered by SOPHiA is a decision-support software designed to explore and investigate variations of the human genome. Alamut helps clinical researchers in the complex tasks of genomic variants annotations, filtration and exploration.

With the addition of Mastermind, users of both technologies will be able to quickly access the genomic evidence associated with human variants, shortening the search time required to interpret a variant and assess its pathogenicity.

This partnership will allow SOPHiAs users to see a wider picture of the detected variants. A key driver in the decision is the breadth and depth of Masterminds coverage of genomic variants and published literature. Mastermind has indexed over 7 million full text articles and 600,000 supplemental data sets and covers over 5.7 million variants found in the medical literature.

This partnership will help experts better and more quickly assess the impact of accurately detected genomic variants in a clinical context. We are thrilled to be able to provide our users with all the necessary information they need to make the best possible decision for each case, said Gioia Althoff, Senior Vice President, Genomics for SOPHiA.

Were excited to partner with SOPHiA to put the most comprehensive and up-to-date genomic research in the hands of geneticists and researchers performing genomic analysis. said Mike Klein, CEO of Genomenon. The broader adoption of Genomenons Mastermind provides significant value to our quickly growing customer base around the world.

About GenomenonGenomenon connects patient DNA with the billions of dollars spent on research to help doctors diagnose and cure cancer patients and babies with rare diseases. Our flagship product, the Mastermind Genomic Search Engine is used by hundreds of genetic labs worldwide to accelerate diagnosis, increase diagnostic yield and assure repeatability in reporting genetic testing results. We license our Mastermind Curated Genomic Datasets to pharmaceutical and bio-pharma companies to inform precision medicine development, deliver genomic biomarkers for clinical trial target selection, and support CDx regulatory submissions with empirical evidence.

For more information, visit http://www.genomenon.com.

About SOPHiA GeneticsA leader in Data-Driven Medicine, SOPHiA GENETICS is a health tech company that developed SOPHiA, an advanced AI technology helping healthcare professionals make sense of the large amount of clinical data. SOPHiA GENETICS is democratizing Data-Driven Medicine by enabling the rapid adoption of genomic and radiomic analysis worldwide, turning data into actionable insights, and sharing knowledge through its community of over 990 healthcare institutions in 82 countries in a sustainable and inclusive way. The company's achievements and innovative approach is recognized by the MIT Technology Review "50 Smartest Companies".

For more information, visit http://www.sophiagenetics.com

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Genomenon's Mastermind to be Integrated into SOPHiA Platform and Alamut Suite - PR Web