Exome sequencing in genetic disease: recent advances and considerations
作者： Jay P Ross , Patrick A Dion , Guy A Rouleau , None
DOI: 10.12688/F1000RESEARCH.19444.1
关键词:
摘要: Over the past decade, exome sequencing (ES) has allowed significant advancements to field of disease research. By targeting protein-coding regions genome, ES combines depth knowledge on protein-altering variants with high-throughput data generation and ease analysis. New discoveries continue be made using ES, medical science benefitted both theoretically clinically from its continued use. In this review, we describe recent advances successes in Through selected examples publications, explore how continues a valuable tool find that might explain etiology or provide insight into biology underlying disease. We then discuss shortcomings terms variant by other technologies would missed because scope techniques ES. conclude brief outlook future suggesting although newer more thorough methods will soon supplant results useful for
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