期刊
CELLULAR AND MOLECULAR LIFE SCIENCES
卷 72, 期 8, 页码 1463-1471出版社
SPRINGER BASEL AG
DOI: 10.1007/s00018-014-1807-9
关键词
Exome; Hereditary disease; Mutation; Polymorphism
资金
- Swiss National Science Foundation [310030_138346]
- Fond'action contre le cancer Lausanne
The past decade has seen the emergence of next-generation sequencing (NGS) technologies, which have revolutionized the field of human molecular genetics. With NGS, significant portions of the human genome can now be assessed by direct sequence analysis, highlighting normal and pathological variants of our DNA. Recent advances have also allowed the sequencing of complete genomes, by a method referred to as whole genome sequencing (WGS). In this work, we review the use of WGS in medical genetics, with specific emphasis on the benefits and the disadvantages of this technique for detecting genomic alterations leading to Mendelian human diseases and to cancer.
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