Our Family Genomics group and collaborators analyzed the whole genome sequences of five families with high burden of inflammatory bowel disease (IBD) in order to elucidate the genomic architecture of IBD. Read about the research here… 3 Bullets: In medical genetics it is an unsolved question to what degree complex diseases are influenced by rare variants with potentially large effects in relation to the many common and weak-effect variants that…
FOR IMMEDIATE RELEASE Genetic Disease Breakthrough Published in Nature Communications SEATTLE, DEC. 18, 2015 – A team of investigators based in Seattle, Amsterdam, and Luxembourg, have established the cause of a rare syndrome consistent with Fanconi Anemia, a chromosome instability disorder which is clinically typified by birth defects, bone marrow failure, leukemia, and susceptibility to solid tumors. The results were reported by researchers from the Institute for Systems Biology (Seattle),…
FOR IMMEDIATE RELEASE SEATTLE, WA and FALLS CHURCH, VA, Sept. 23, 2015—The Institute for Systems Biology (ISB) and the Inova Translational Medicine Institute (ITMI) announced today a new release of Kaviar, the most comprehensive collection of human genomic variants currently available to the public. This release expands on the January 2015 release most notably by the addition of 3842 whole genome sequences provided by ITMI. Inova, a not-for-profit healthcare system…
3 Bullets: Kaviar is ISB’s comprehensive catalog of human genomic variation Kaviar combines 31 data sources for a total of 151 million single nucleotide variants (SNVs), covering 5% of all the positions in the human genome A researcher studying possible disease-causing variants can use Kaviar to answer the question, “Have these variants been observed before, and if so, how often?” By Terry Farrah A typical pair of human genomes are…
3 Bullets: ISB researchers and their collaborators studied a group of supercentenarians (110 years or older) to explore the genetics of ‘extreme longevity.’ The group performed whole-genome sequencing on 17 supercentenarians in order to look for any rare protein-altering variants associated with extreme longevity. While the researchers did not find a single cause for extreme longevity within this sample size, the genomic data is now available for future studies. By…
3 Bullets: Adams-Oliver syndrome (AOS) is a rare congenital disease characterized by scalp lesions and limb defects. Additional vascular abnormalities and heart defects can lead to early death in some patients. By analyzing twelve families affected with the disease, we identified causal mutations in a new disease gene, NOTCH1, in five families. NOTCH1 is likely to be the major cause of AOS. NOTCH1 codes for a transcription factor that governs…
By Gustavo Glusman, ISB Senior Research Scientist ISB has joined the Global Alliance for responsible sharing of genomic and clinical data. You can read the white paper here. In the last couple of years, we (Family Genomics at ISB) moved from analyzing a handful of genomes (for the Miller Syndrome project) to analyzing over a thousand high-quality whole genomes we have in-house – in addition to the low coverage data…
