孟德尔遗传
工作流程
全基因组测序
计算生物学
基因组
DNA测序
计算机科学
数据科学
生物
遗传学
基因
数据库
作者
Abdul Rezzak Hamzeh,Thomas D. Andrews,Matthew A. Field
出处
期刊:Methods in molecular biology
日期:2021-01-01
卷期号:: 1-25
被引量:2
标识
DOI:10.1007/978-1-0716-1103-6_1
摘要
Increasingly affordable sequencing technologies are revolutionizing the field of genomic medicine. It is now feasible to interrogate all major classes of variation in an individual across the entire genome for less than $1000 USD. While the generation of patient sequence information using these technologies has become routine, the analysis and interpretation of this data remains the greatest obstacle to widespread clinical implementation. This chapter summarizes the steps to identify, annotate, and prioritize variant information required for clinical report generation. We discuss methods to detect each variant class and describe strategies to increase the likelihood of detecting causal variant(s) in Mendelian disease. Lastly, we describe a sample workflow for synthesizing large amount of genetic information into concise clinical reports.
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