Article
Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing.
Scientific reports - 6 Jul 2015
Imai Atsuko, Nakaya Akihiro, Fahiminiya Somayyeh, Tétreault Martine, Majewski Jacek, Sakata Yasushi, Takashima Seiji, Lathrop Mark, Ott Jurg
Abstract excerpt
A major challenge in current exome sequencing in autosomal recessive (AR) families is the lack of an effective method to prioritize single-nucleotide variants (SNVs). AR families are generally too small for linkage analysis, and length of homozygous regions is unreliable for identification of causative variants. Various common filtering steps usually result in a list of candidate variants that cannot be narrowed...
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