An Incomplete Understanding of Human Genetic Variation

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 genome...

Full description

Saved in:
Bibliographic Details
Published in:Genetics (Austin) 2016-04, Vol.202 (4), p.1251-1254
Main Authors: Huddleston, John, Eichler, Evan E
Format: Article
Language:English
Subjects:
Consortia
DNA Copy Number Variations
Genes
Genetic Association Studies
Genetic Predisposition to Disease
Genetic Variation
Genome, Human
Genomes
Genomics
Genotype & phenotype
Haplotypes
Humans
INDEL Mutation
Mutation
Citations: Items that this one cites
Items that cite this one
Online Access:Get full text
Tags: Add Tag
No Tags, Be the first to tag this record!
Description
Summary: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.
ISSN:1943-2631
0016-6731
1943-2631
DOI:10.1534/genetics.115.180539