Genomic Analysis in the Age of Human Genome Sequencing.

TitleGenomic Analysis in the Age of Human Genome Sequencing.
Publication TypeJournal Article
Year of Publication2019
AuthorsLappalainen, T, Scott, AJ, Brandt, M, Hall, IM
Date Published2019 Mar 21

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.

Alternate JournalCell
PubMed ID30901550
Grant ListUM1 HG008853 / HG / NHGRI NIH HHS / United States
UM1 HG008901 / HG / NHGRI NIH HHS / United States