Allele Frequency Community formed to significantly address need to improve the interpretation of DNA findings on disease-causing gene variants and rare diseases
A coalition of 13 leading life science and diagnostics organizations recently announced the formation of the Allele Frequency Community, a landmark initiative that is creating an extensive, high-quality and ethnically diverse collection of human genomes to address a key challenge in interpreting sequencing data for research and clinical applications. The announcement coincides with the start of the 16th annual Advances in Genome Biology and Technology (AGBT) scientific meeting in Marco Island, Florida.
The Allele Frequency Community was recently formed after the 13 organizations agreed to pool their extensive human exome- and genome-wide variant call datasets in a secure, anonymized, pooled fashion to create the most ethnically diverse, freely-accessible, hosted community database of allele frequencies available. Until now, labs often collected their own, private allele frequency libraries, but did not have the infrastructure and incentives to integrate their resources into a freely-available community asset.
Increasing participation in this community-based resource is expected to create greater value over time. In particular, the Allele Frequency Community has the potential to create increasing value for life sciences and clinical research since information on observed allele frequencies can create important benchmarks that significantly increase the accuracy of findings from data generated by molecular analyses, such as Next-Generation Sequencing (NGS).
To enable this resource to grow, users have the opportunity to opt-in to join the Allele Frequency Community and benefit from the extensive database, agreeing in return to contribute statistics from their sequences to the database. Only anonymous, pooled allele frequencies are provided, protecting patient privacy.
The Allele Frequency Community database already holds more than 70,000 variant call datasets including 8,000 whole genomes and has been shown in internal benchmarking studies to generate a 43% average reduction in false positive rates in causal variant identification.
The founding collaborators of the Allele Frequency Community are:
QIAGEN N.V. is one of the founding collaborators of the Allele Frequency Community, and is providing bioinformatics infrastructure and software for the development of this community-based resource.
Over the last few years, access to allele frequency data from large populations has been the most useful resource for the interpretation of human variation, said Dr. Heidi Rehm, Ph.D., Director of the Laboratory for Molecular Medicine at Partners Healthcare Personalized Medicine. The Allele Frequency Community is a really valuable project. I am happy to share data through this new resource and excited that many other people have agreed to do so as well.
An allele is an alternative form of a gene found in a persons DNA. Scientists need diverse, large-scale data on allele frequencies to accurately identify potential disease-causing DNA changes in a population. Information on allele frequency also tells clinicians how common certain changes are within the population, helping to distinguish rare, disease-causing DNA changes from more common variations. A key challenge has been the lack of extensive collections of human genomes as a reference set. A prospective disease-causing variant that appears to be rare based on publicly available data may in fact be more prevalent in an ethnic population under-represented in public databases.
See the original post here:
- Podcast 9 Athens part 3 and news - November 8th, 2009 [November 8th, 2009]
- Podcast 10 Athens part 4 - November 8th, 2009 [November 8th, 2009]
- Podcast 11 Athens Part 5 - November 8th, 2009 [November 8th, 2009]
- Episode 12 Cardiac Nuclear Medicine in the UK - November 8th, 2009 [November 8th, 2009]
- Podcast 13 Choline PET and prostate cancer - November 8th, 2009 [November 8th, 2009]
- Episode14 ED function and Dysponea - November 8th, 2009 [November 8th, 2009]
- ep 15 Collimator Choice and Reconstruction algorithm - November 8th, 2009 [November 8th, 2009]
- Episode 16 Dr Strauss on vulnerable plaque - November 8th, 2009 [November 8th, 2009]
- Episode17 Chemical Stress - November 8th, 2009 [November 8th, 2009]
- Episode 18 Myocardial Perfusion Imaging and Diabetes - November 8th, 2009 [November 8th, 2009]
- Episode 19 The INSPIRE trial - November 8th, 2009 [November 8th, 2009]
- 20 Dual isotope with a difference - November 8th, 2009 [November 8th, 2009]
- Episode 21 The real effect of stress - November 8th, 2009 [November 8th, 2009]
- Episode 22 D-SPECT - November 8th, 2009 [November 8th, 2009]
- Episode 23 VQ Reprise - November 8th, 2009 [November 8th, 2009]
- Episode 24 Hepatobiliary Nuclear Medicine - November 8th, 2009 [November 8th, 2009]
- Episode 25 Sleep Apnea - November 8th, 2009 [November 8th, 2009]
- Episode 26 Imaging Post Traumatic Stress Disorder - November 8th, 2009 [November 8th, 2009]
- Episode 27 Cardiac Stem Cells - November 8th, 2009 [November 8th, 2009]
- Episode 28 Molly Supply - November 8th, 2009 [November 8th, 2009]
- Episode 29 Melanoma therapy interview with Dr Ekaterina Dadachova - November 8th, 2009 [November 8th, 2009]
- Episode 30 Viral Therapy - November 8th, 2009 [November 8th, 2009]
- Episode 31 breast radiotherapy using radioisotopes - November 8th, 2009 [November 8th, 2009]
- Episode 32 news from snm - November 8th, 2009 [November 8th, 2009]
- Episode 33 EBV Imaging and Therapy - November 8th, 2009 [November 8th, 2009]
- Episode 34 Dr Lele SNM India 2009 - December 14th, 2009 [December 14th, 2009]
- Episode 35 Dr Andrew Scott from the Ludwig institute - January 10th, 2010 [January 10th, 2010]
- Episode 36 CardiArc - February 25th, 2010 [February 25th, 2010]
- Episode 37 Dr Modder Radiosynoviorthesis (Radiation Synovectomy) - March 31st, 2010 [March 31st, 2010]
- Episode 38 Indian Nuclear Medicine With Dr Malhotra and Dr Krishna - May 28th, 2010 [May 28th, 2010]
- Episode 39 Prof Ora Israel The Utility of Hybrid Imaging - July 13th, 2010 [July 13th, 2010]
- Episode 40 New V/Q SPECT developments - October 11th, 2010 [October 11th, 2010]
- Episode 41 scintimun - February 14th, 2011 [February 14th, 2011]
- Episode 42 Radio-Isotope Supply into the future - March 6th, 2011 [March 6th, 2011]
- Podcast 4: DNA therapy - April 24th, 2011 [April 24th, 2011]
- Sorry about the delay a new podcast will be out soon! - April 24th, 2011 [April 24th, 2011]
- Podcast 5 Flash 3D - April 24th, 2011 [April 24th, 2011]
- Podcast 6 Affibody - April 24th, 2011 [April 24th, 2011]
- Podcast 7 EANM 2006 Athens Part 1 - April 24th, 2011 [April 24th, 2011]
- Podcast 8 Athens Part 2 - April 24th, 2011 [April 24th, 2011]
- Episode 43 Rapidscan Part 1, 720P high quality video version - May 1st, 2011 [May 1st, 2011]
- Episode 43 Rapidscan Part 1, Ipod quality video - May 1st, 2011 [May 1st, 2011]
- Episode 43 Rapidscan Part 1, Audio version - May 1st, 2011 [May 1st, 2011]
- Episode 45 Mummies with cardiovascular disease video - May 21st, 2011 [May 21st, 2011]
- Episode 45 Mummies with cardiovascular disease audio edition - May 21st, 2011 [May 21st, 2011]
- Episode 46 Dr Gordon DePuey Choosing Reconstruction clinical perspective - August 7th, 2011 [August 7th, 2011]
- Episode 46 Dr Gordon DePuey Choosing Reconstruction clinical perspective audio version - August 7th, 2011 [August 7th, 2011]
- Episode 47 Cardiac Image Fusion With Dr Kaufmann - September 18th, 2011 [September 18th, 2011]
- Episode 47 Cardiac Fusion with Dr Kaufmann video version - September 18th, 2011 [September 18th, 2011]
- Dear Steve, I am and many more like me are your one more thing. - October 9th, 2011 [October 9th, 2011]
- EPISODE 48 PET MRI camera from Siemens with Dr Georgi audio - October 23rd, 2011 [October 23rd, 2011]
- EPISODE 48 PET MRI camera from Siemens Dr Georgi video - October 23rd, 2011 [October 23rd, 2011]
- Silicon Biosystems to Present Single-Circulating Tumor Cell Molecular Characterization at the Fourth World CTC Summit - April 25th, 2012 [April 25th, 2012]
- Leukaemia cells have a remembrance of things past - April 25th, 2012 [April 25th, 2012]
- Technologist Education Requirements Can Help Cut Repeat Scans - April 25th, 2012 [April 25th, 2012]
- HKU Collaborative Research Discovers A Novel Molecular Mechanism Of A New Anti-HIV-1 Drug Candidate - April 25th, 2012 [April 25th, 2012]
- Focal Segmental Glomerulosclerosis and the Nephrotic Syndrome - Part 1 Clinical - Video - May 4th, 2012 [May 4th, 2012]
- Electro-Medicine : Biological Physics - The Molecular Basis of Alzheimers Disease - Video - May 4th, 2012 [May 4th, 2012]
- osdd heterocyclic compounds and molecular medicines - Video - May 4th, 2012 [May 4th, 2012]
- Molecule to Medicine: The Biomarker Frontier - Video - May 4th, 2012 [May 4th, 2012]
- Fulfilling the Promise of Molecular Medicine in a Developmental Brain Disorder - Video - May 4th, 2012 [May 4th, 2012]
- Focus on Stefanie Dimmeler - Video - May 4th, 2012 [May 4th, 2012]
- Dundee - May 4th, 2012 [May 4th, 2012]
- Nanotechnology In Medicine: Huge Potential, But What Are The Risks? - May 5th, 2012 [May 5th, 2012]
- Cutting Edge Technology Coming To DMH - May 5th, 2012 [May 5th, 2012]
- This Week in Experimental and Molecular Pathology - May 5th, 2012 [May 5th, 2012]
- Researchers' discovery offers hope for cancer, heart disease miracle drugs - May 7th, 2012 [May 7th, 2012]
- Penn State student Zachary Hostetler from Garnet Valley is being honored as a student marshal - May 7th, 2012 [May 7th, 2012]
- NCKU Student Wins Prestigious Award for Anti-Cancer Research - May 10th, 2012 [May 10th, 2012]
- In-Vitro Diagnostics (IVD) Market (Clinical Chemistry, Immunoassays, Molecular Diagnostics, Hematology Analyzers ... - May 10th, 2012 [May 10th, 2012]
- Pitt team uses genomics to identify a molecular-based treatment for a viral skin cancer - May 10th, 2012 [May 10th, 2012]
- Genomics used to identify a molecular-based treatment for a viral skin cancer - May 10th, 2012 [May 10th, 2012]
- 2 molecular biologists get $500K medical prize - May 13th, 2012 [May 13th, 2012]
- 2 molecular biologists share $500K medical prize - May 13th, 2012 [May 13th, 2012]
- Lab21 Unveils New Molecular Analysis Services at Greenville Site - May 13th, 2012 [May 13th, 2012]
- 2 molecular biologists from NYC to share $500K medical prize for pioneering research on cells - May 13th, 2012 [May 13th, 2012]
- Two Molecular Biologists Get $500K Medical Prize - May 13th, 2012 [May 13th, 2012]
- Pair of molecular biologists receive Albany Medical Center Prize - May 13th, 2012 [May 13th, 2012]
- CNIO scientists successfully test the first gene therapy against aging-associated decline - May 16th, 2012 [May 16th, 2012]
- Cancer Institute of New Jersey Aims to Advance Personalized Cancer Treatments Through 'Precision Medicine' - May 16th, 2012 [May 16th, 2012]