Beyond Homozygosity Mapping: Family-Control analysis based on Hamming distance for prioritizing variants in exome sequencing

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 causat...

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Veröffentlicht in:Sci Rep
Hauptverfasser: Imai, Atsuko, Nakaya, Akihiro, Fahiminiya, Somayyeh, Tétreault, Martine, Majewski, Jacek, Sakata, Yasushi, Takashima, Seiji, Lathrop, Mark, Ott, Jurg
Format: Artigo
Sprache:Inglês
Veröffentlicht: Nature Publishing Group 2015
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Article
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC5155624/
https://ncbi.nlm.nih.gov/pubmed/26143870
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/srep12028
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