Author: Allison J Cox; Fillan Grady; Gabriel Velez; Vinit B Mahajan; Polly J Ferguson; Andrew Kitchen; Benjamin W Darbro; Alexander G Bassuk
Title: In trans variant calling reveals enrichment for compound heterozygous variants in genes involved in neuronal development and growth. Document date: 2018_12_13
ID: j5jrpbst_2
Snippet: This problem has been alleviated by recent advances in next-generation sequencing (NGS) , and the detection of highly penetrant rare variants associated with disease has reduced the heritability gap for such diseases as autism, Crohn's disease, and osteoporosis (Bomba, Walter, & Soranzo, 2017; Kosmicki, Churchhouse, Rivas, & Neale, 2016) . Despite these advances, for most traits and complex disorders the underlying genes and mutations remain elus.....
Document: This problem has been alleviated by recent advances in next-generation sequencing (NGS) , and the detection of highly penetrant rare variants associated with disease has reduced the heritability gap for such diseases as autism, Crohn's disease, and osteoporosis (Bomba, Walter, & Soranzo, 2017; Kosmicki, Churchhouse, Rivas, & Neale, 2016) . Despite these advances, for most traits and complex disorders the underlying genes and mutations remain elusive.
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