Genetics, genomics, and their relevance to pathology and therapy.

ABSTRACT: Genetic and genomic investigations are a starting point for the study of human disease, seeking to discover causative variants relevant to disease pathophysiology. Over the past 5 years, massively parallel, high-throughput, next-generation sequencing techniques have revolutionized genetics and genomics, identifying the causes of many Mendelian diseases. The application of whole-genome sequencing and whole-exome sequencing to large populations has produced several publicly available sequence datasets that have revealed the scope of human genetic variation and have contributed to important methodological advances in the study of both common and rare genetic variants in genetically complex diseases. The importance of noncoding genetic variation has been highlighted by the Encyclopedia of DNA

SUBMITTER: Ombrello MJ 

PROVIDER: S-EPMC4149217 | biostudies-literature | 2014 Apr

REPOSITORIES: biostudies-literature