http://www.nitrc.org/forum/forum.php?forum_id=5172 <p>We are announcing the release of sequencing and variation data resulting from the reanalysis of Whole Exome Sequences from subjects belonging to the Simons Simplex Collection (SSC).  Original data were contributed by a collaboration between NDAR Collections 1878 (Eichler Lab, University of Washington), 1936 (Wigler Lab, Cold Spring Harbor Laboratories), and 1985 (State Lab, UCSF).  Reanalysis of these data was done by members of the Eichler Lab, sequences were realigned to a common reference genome (human_g1k_v37) and analyzed for possible genomic variants (SNVs, InDels, and CNVs).</p> The resulting dataset on 2415 SSC families (9047 individual subjects) now available in NDAR, includes: <ol> <li>realigned BAM files -  NDAR Study 334 (<a href="http://ndar.nih.gov/study.html?id=334">http://ndar.nih.gov/study.html?id=334</a>);</li> <li>unfiltered SNV/InDel variant calls made using GATK with and without annotations - NDAR Study 348 (<a href="http://ndar.nih.gov/study.html?id=348">http://ndar.nih.gov/study.html?id=348</a>);</li> <li>unfiltered SNV/InDel variant calls made using FreeBayes  with and without annotations - NDAR Study 349 (<a href="http://ndar.nih.gov/study.html?id=349">http://ndar.nih.gov/study.html?id=349</a>);</li> <li>CNV variant calls made using XHMM and CoNIFER - NDAR Study 361 (<a href="http://ndar.nih.gov/study.html?id=361">http://ndar.nih.gov/study.html?id=361</a>).</li> </ol> The entire dataset is also available in NDAR Collection 2042 (<a href="https://ndar.nih.gov/edit_collection.html?id=2042">https://ndar.nih.gov/edit_collection.html?id=2042</a>) en-us Copyright 2000-2026 NITRC OSI Wed, 22 Apr 2026 0:29:18 GMT http://blogs.law.harvard.edu/tech/rss NITRC RSS generator