Estimation of allele frequency and association mapping using next-generation sequencing data

2011250 citationsJournal Articlegold Open Access

Authors

Su Yeon Kim · University of California, Berkeley

Kirk E. Lohmueller · Acupuncture & Integrative Medicine College

Anders Albrechtsen · University of Copenhagen

Yingrui Li · BGI Group (China)

Thorfinn Sand Korneliussen · University of Copenhagen

Geng Tian · BGI Group (China)

Niels Grarup

Abstract

Overall, our results suggest that association mapping and estimation of allele frequencies should not be based on genotype calling in low to medium coverage data. Furthermore, if genotype calling methods are used, it is usually better not to filter genotypes based on the call confidence score.

Topics & Keywords

Genetic Associations and Epidemiology RNA modifications and cancer Genomics and Rare Diseases

Publication Details

Published in: BMC Bioinformatics

Volume 12, Issue 1, pp. 231-231

DOI: 10.1186/1471-2105-12-231

Field-Weighted Citation Impact: 8.60

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Estimation of allele frequency and association mapping using next-generation sequencing data

Authors

Abstract

Topics & Keywords

Publication Details