Allele balance bias identifies systematic genotyping errors and false disease associations.
Muyas, Francesc; Bosio, Mattia; Puig, Anna; Susak, Hana; Domènech, Laura; Escaramis, Georgia; Zapata, Luis; Demidov, German; Estivill, Xavier; Rabionet, Raquel; Ossowski, Stephan.
; 2018 Oct 24.
Artigo em Inglês | MEDLINE | ID: mdl-30353964
Reveel: large-scale population genotyping using low-coverage sequencing data.
MultiGeMS: detection of SNVs from multiple samples using model selection on high-throughput sequencing data.
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data.
Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data.
Interpreting functional effects of coding variants: challenges in proteome-scale prediction, annotation and assessment.
ngsTools: methods for population genetics analyses from next-generation sequencing data.
RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data.
On the design and analysis of next-generation sequencing genotyping for a cohort with haplotype-informative reads.
Association analysis using next-generation sequence data from publicly available control groups: the robust variance score statistic.
Fast genotyping of known SNPs through approximate k-mer matching.