TAILIEUCHUNG - Báo cáo y học: "Exome sequencing: the expert view"

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: Exome sequencing: the expert view. | Biesecker et al. Genome Biology 2011 12 128 http 2011 12 9 128 w Genome Biology OPINION L__ Exome sequencing the expert view Leslie G Biesecker 1 Kevin V Shianna2 and Jim C Mullikin3 Abstract To complement our special issue on exome sequencing Genome Biology asked several leaders in the field for their views on this new approach. Leslie G Biesecker LGB Jim C Mullikin JM and Kevin V Shianna KVS discuss the reasons for the popularity of exome sequencing and its contribution to genomics. How can exome sequencing contribute to our understanding of the dynamic nature of the genome LGB JCM Exomes are ideal to help us understand high-penetrance allelic variation and its relationship to phenotype. Because exomes focus on exons which include coding regions of genes and because most high-penetrance Mendelian or nearly so variation is mediated by non-synonymous frameshifting and canonical splice variation exomes are ideal for studying the relationship of such variation to health and disease. KVS Sequencing using any approach is still in its early days but it is clear that exome sequencing will often lead to the identification of the causative variant for Mendelian diseases. This should not be surprising given that we know that most mutations causing Mendelian disease are exonic. That said there are clear limitations even for Mendelian disease. Structural variations SVs which are also important for Mendelian disease are not easily detected using an exome approach. How well exome sequencing may do for complex traits is an entirely open question since we do not know what kinds of mutations are important there but it is possible they are more often regulatory than for Mendelian disease. How much has exome sequencing been driven by cost alone LGB JCM Cost is a huge factor - every day we ask ourselves the question Would we rather have six Correspondence leslieb@ 1Genetic Disease Research Branch and NIH Intramural Sequencing Center National Human

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