z-logo
open-access-imgOpen Access
Fast genotyping of known SNPs through approximate k-mer matching
Author(s) -
Ariya Shajii,
Deniz Yörükoğlu,
Yun William Yu,
Bonnie Berger
Publication year - 2016
Publication title -
bioinformatics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 3.599
H-Index - 390
eISSN - 1367-4811
pISSN - 1367-4803
DOI - 10.1093/bioinformatics/btw460
Subject(s) - dbsnp , genotyping , molecular inversion probe , single nucleotide polymorphism , snp genotyping , computer science , computational biology , population , tag snp , snp , genetics , biology , genotype , gene , demography , sociology
As the volume of next-generation sequencing (NGS) data increases, faster algorithms become necessary. Although speeding up individual components of a sequence analysis pipeline (e.g. read mapping) can reduce the computational cost of analysis, such approaches do not take full advantage of the particulars of a given problem. One problem of great interest, genotyping a known set of variants (e.g. dbSNP or Affymetrix SNPs), is important for characterization of known genetic traits and causative disease variants within an individual, as well as the initial stage of many ancestral and population genomic pipelines (e.g. GWAS).

The content you want is available to Zendy users.

Already have an account? Click here to sign in.
Having issues? You can contact us here
Accelerating Research

Address

John Eccles House
Robert Robinson Avenue,
Oxford Science Park, Oxford
OX4 4GP, United Kingdom