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Meaningful analysis of next-generation sequencing (NGS) data, which are produced extensively by genetics and genomics studies, relies crucially on the accurate calling of SNPs and genotypes. Recently developed statistical methods both improve and quantify the considerable uncertainty associated with genotype calling, and will especially benefit the growing number of studies using low- to medium-coverage data.
A list of programs for genotype and SNP calling :
SOAP2 http://soap.genomics.org.cn/index.html
Single-sample High-quality variant database (for example, dbSNP) Package for NGS data analysis, which includes a single individual genotype caller (SOAPsnp)
realSFS http://128.32.118.212/thorfinn/realSFS/
Single-sample Aligned reads Software for SNP and genotype calling using single individuals and allele frequencies. Site frequency spectrum (SFS) estimation
Samtools http://samtools.sourceforge.net/
Multi-sample Aligned reads Package for manipulation of NGS alignments, which includes a computation of genotype likelihoods (samtools) and SNP and genotype calling (bcftools)
GATK http://www.broadinstitute.org/gsa/wiki/index.php/The_Genome_Analysis_Toolkit Multi-sample Aligned reads Package for aligned NGS data analysis, which includes a SNP and genotype caller (Unifed Genotyper), SNP filtering (Variant Filtration) and SNP quality recalibration (Variant Recalibrator)
Beagle http://faculty.washington.edu/browning/beagle/beagle.html
Multi-sample LD Candidate SNPs, genotype likelihoods Software for imputation, phasing and association that includes a mode for genotype calling
IMPUTE2 http://mathgen.stats.ox.ac.uk/impute/impute_v2.html
Multi-sample LD Candidate SNPs, genotype likelihoods Software for imputation and phasing, including a mode for genotype calling. Requires fine-scale linkage map
QCall ftp://ftp.sanger.ac.uk/pub/rd/QCALL
Multi-sample LD ‘Feasible’ genealogies at a dense set of loci, genotype likelihoods Software for SNP and genotype calling, including a method for generating candidate SNPs without LD information (NLDA) and a method for incorporating LD information (LDA). The ‘feasible’ genealogies can be generated using Margarita (http://www.sanger.ac.uk/resources/software/margarita)
MaCH http://genome.sph.umich.edu/wiki/Thunder
Multi-sample LD Genotype likelihoods Software for SNP and genotype calling, including a method (GPT_Freq) for generating candidate SNPs without LD information and a method (thunder_glf_freq) for incorporating LD information
Comments
Delly – Structural variant discovery by integrated paired-end and split-read analysis. [ paper-2012 ]
lumpy – lumpy: a general probabilistic framework for structural variant discovery. [ paper-2014 ]
manta – Structural variant and indel caller for mapped sequencing data. [ paper-2015 ]gridss – GRIDSS: the Genomic Rearrangement IDentification Software Suite. [ paper-2017 ]smoove – structural variant calling and genotyping with existing tools, but,smoothly.