title: An Incomplete Understanding of Human Genetic Variation.
abstract: Deciphering the genetic basis of human disease requires a comprehensive knowledge of genetic variants irrespective of their class or frequency. Although an impressive number of human genetic variants have been catalogued, a large fraction of the genetic difference that distinguishes two human genomes is still not understood at the base-pair level. This is because the emphasis has been on single-nucleotide variation as opposed to less tractable and more complex genetic variants, including indels and structural variants. The latter, we propose, will have a large impact on human phenotypes but require a more systematic assessment of genomes at deeper coverage and alternate sequencing and mapping technologies.
authors.affiliation: Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195 Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195.
authors.forename: John
authors.identifier: http://orcid.org/0000-0002-4250-2063
authors.initials: J
authors.lastname: Huddleston
authors.affiliation: Department of Genome Sciences, University of Washington School of Medicine, Seattle, Washington 98195 Howard Hughes Medical Institute, University of Washington, Seattle, Washington 98195 eee@gs.washington.edu.
authors.forename: Evan E
authors.identifier: http://orcid.org/0000-0002-8246-4014
authors.initials: EE
authors.lastname: Eichler
mesh_terms: D056915:DNA Copy Number Variations; D056726:Genetic Association Studies; D020022:Genetic Predisposition to Disease; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics; D006801:Humans; D054643:INDEL Mutation
keywords: copy number variation; human genetic variation; indels; segmental duplication; structural variation