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Báo cáo y học: "Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes"

Tuyển tập các báo cáo nghiên cứu về y học được đăng trên tạp chí y học Wertheim cung cấp cho các bạn kiến thức về ngành y đề tài: Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes. | Smith et al. Genome Biology 2011 12 R85 http genomebiology.eom 2011 12 9 R85 Genome Biology METHOD Open Access Reducing the exome search space for Mendelian diseases using genetic linkage analysis of exome genotypes 1 s I . S-. u- I u . S-. D c m I 1 r I I D r t m Z z l 1 h ỉ I r f I c I_I I I Z f Z 2 c I I z f- Chz ìr r2 3 Dni li I I z lzk Z 1 4 5 Katherine R smith Catherine J Bromheao Michael s Hiloebrano A Eliot Shearer Paul J Lockhart I_I frz iz l I - I m z l I 6 D I r k z Z J I I Z x fry Z z4 7 8 r VC z h I I I lit tv - 4 Ch fl Z 1 I A m r4 7 D I r k z Z J I c m I h 2 3 9 Z 1 Hossein Najmabaai Richaro J Leventer George McGillivray Davio J Amor Richaro J smith ano Melanie Bahlo1 10 Abstract Many exome sequencing studies of Mendelian disorders fail to optimally exploit family information. Classical genetic linkage analysis is an effective method for eliminating a large fraction of the candidate causal variants discovered even in small families that lack a unique linkage peak. We demonstrate that accurate genetic linkage mapping can be performed using SNP genotypes extracted from exome data removing the need for separate array-based genotyping. We provide software to facilitate such analyses. Background Whole exome sequencing WES has recently become a popular strategy for discovering potential causal variants in individuals with inherited Mendelian disorders providing a cost- effective fast-track approach to variant discovery. However a typical human genome differs from the reference genome at over 10 000 potentially functional sites 1 identifying the disease-causing mutation among this plethora of variants can be a significant challenge. For this reason exome sequencing is often preceded by genetic linkage analysis which allows variants outside of linkage peaks to be excluded. The linkage peaks delineate tracts of identity by descent sharing that match the proposed genetic model. This combination strategy has been successfully used to identify variants causing .