Developing Genome and Exome Sequencing for Candidate Gene Identification in Inherited Disorders: An Integrated Technical and Bioinformatics Approach
作者： Emily M. Coonrod , Jacob D. Durtschi , Rebecca L. Margraf , Karl V. Voelkerding
DOI: 10.5858/ARPA.2012-0107-RA
关键词:
摘要: Context.—Advances in sequencing technology with the commercialization of next-generation (NGS) has substantially increased feasibility human genomes and exomes. Next-generation been successfully applied to discovery disease-causing genes rare, inherited disorders. By necessity, advent NGS fostered concurrent development bioinformatics approaches expeditiously analyze large data sets generated. used for important discoveries research setting is now being implemented into clinical diagnostic arena. Objective.—To review current literature on technical exome genome highlight examples successful disease gene To discuss challenges implementing arenas. Data Sources.—Literature authors' experience. Conclusions.—Next-generation sequ...
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