SnapShot: Human Biomedical Genomics | Zendy

Eimear E. Kenny | Zendy; Carlos D. Bustamante | Zendy

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SnapShot: Human Biomedical Genomics

Author(s) -

Eimear E. Kenny,

Carlos D. Bustamante

Publication year - 2011

Publication title -

cell

Language(s) - English

Resource type - Journals

SCImago Journal Rank - 26.304

H-Index - 776

eISSN - 1097-4172

pISSN - 0092-8674

DOI - 10.1016/j.cell.2011.09.020

Subject(s) - biology , snapshot (computer storage) , genetics , allele , genotype , genomics , dna sequencing , genome , computational biology , dna , gene , computer science , operating system

Single-nucleotide variation (SNV) When a single base pair (A, C, T, G) is observed to vary in a DNA sequence. This variant may be private to an individual or family. For biallelic SNVs (i.e., an SNV that exists in two possible states), an individual can carry three possible allelic combinations or genotypes on their two chromosomes (e.g., for a single base pair position that could be A or G, the three possible genotypes are AA, AG, or GG).

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