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_1
Snippet: Using the premise that effective variants are in linkage disequilibrium (LD) with common polymorphisms and haplotypes, linkage and association studies have identified genes involved in the development of traits and pathologies. Upon their identification, the regions flanking associated markers are sequenced to find the linked, penetrant mutation. However, rare variants are often not detectable using LD-based methods......
Document: Using the premise that effective variants are in linkage disequilibrium (LD) with common polymorphisms and haplotypes, linkage and association studies have identified genes involved in the development of traits and pathologies. Upon their identification, the regions flanking associated markers are sequenced to find the linked, penetrant mutation. However, rare variants are often not detectable using LD-based methods.
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