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Genomic Analysis in the Age of Human Genome Sequencing.

Abstract：

:Affordable genome sequencing technologies promise to revolutionize the field of human genetics by enabling comprehensive studies that interrogate all classes of genome variation, genome-wide, across the entire allele frequency spectrum. Ongoing projects worldwide are sequencing many thousands-and soon millions-of human genomes as part of various gene mapping studies, biobanking efforts, and clinical programs. However, while genome sequencing data production has become routine, genome analysis and interpretation remain challenging endeavors with many limitations and caveats. Here, we review the current state of technologies for genetic variant discovery, genotyping, and functional interpretation and discuss the prospects for future advances. We focus on germline variants discovered by whole-genome sequencing, genome-wide functional genomic approaches for predicting and measuring variant functional effects, and implications for studies of common and rare human disease.

journal_name

Cell

journal_title

Cell

authors

Lappalainen T,Scott AJ,Brandt M,Hall IM

doi

10.1016/j.cell.2019.02.032

subject

Has Abstract

pub_date

2019-03-21 00:00:00

pages

70-84

issue

1

eissn

0092-8674

issn

1097-4172

pii

S0092-8674(19)30215-6

journal_volume

177

pub_type

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