Massively Parallel Sequencing for Rare Genetic Disorders: Potential and Pitfalls.

ABSTRACT: There have been two major eras in the history of gene discovery. The first was the era of linkage analysis, with approximately 1,300 disease-related genes identified by positional cloning by the turn of the millennium. The second era has been powered by two major breakthroughs: the publication of the human genome and the development of massively parallel sequencing (MPS). MPS has greatly accelerated disease gene identification, such that disease genes that would have taken years to map previously can now be determined in a matter of weeks. Additionally, the number of affected families needed to map a causative gene and the size of such families have fallen: de novo mutations, previously intractable by linkage analysis, can be identified through sequencing of the parent-child trio, a

SUBMITTER: McInerney-Leo AM 

PROVIDER: S-EPMC7933540 | biostudies-literature | 2020

REPOSITORIES: biostudies-literature