Article
Using familial information for variant filtering in high-throughput sequencing studies.
Human genetics - 1 Nov 2014
Bahlo Melanie, Tankard Rick, Lukic Vesna, Oliver Karen L, Smith Katherine R
Abstract excerpt
High-throughput sequencing studies (HTS) have been highly successful in identifying the genetic causes of human disease, particularly those following Mendelian inheritance. Many HTS studies to date have been performed without utilizing available family relationships between samples. Here, we discuss the many merits and occasional pitfalls of using identity by descent information in conjunction with HTS studies....
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