Genomic Analysis in the Age of Human Genome Sequencing

Tuuli Lappalainen, Alexandra J. Scott, Margot Brandt, Ira M. Hall

Research output: Contribution to journalReview articlepeer-review

103 Scopus citations


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.

Original languageEnglish
Pages (from-to)70-84
Number of pages15
Issue number1
StatePublished - Mar 21 2019


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