Results for "SNVs"
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...Variant Detection Basic Galaxy Tutorial Variant Detection tutorial In this tutorial we cover the concepts of detecting small variants (SNVs and indels) in human genomic...3667 days ago
WhatsHap: fast and accurate read-based phasing
...et al., WhatsHap: fast and accurate read-based phasing) Works well with Illumina, PacBio, Oxford Nanopore and other types of reads It phases SNVs, indels and even “compl...2183 days ago
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List of Bioinformatics Software Tools for Next Generation Sequencing
...th 3 programs, marginAlign, marginCaller (calls SNVs), marginStats (computes qc st...iption: command-line program, detection of rare SNVs, relies upon Samtools, can be...for family-based sequencing studies; Annotaties SNVs and INDELs; 4 models- autosom...2923 days ago
Tools to Predict the Impact of Missense Variants !
...ts, that is, nonsynonymous single‐nucleotide variants, and noncoding variants” and its weighting scheme attributes higher tolerance scores to SNVs in proteins, related proteins...2218 days ago
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Bio-Scripts
- ...ls that perform variant calling and genotyping for short variants (SNPs, SNVs and Indels) CombineGVCFs...on Spark Mutect2 Call somatic SNVs and indels via local assembly...
2090 days ago
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FastGT: an alignment-free method for calling common SNVs directly from raw sequencing reads
FastGT is a program package for whole-genome genotyping of genome variants directly from raw sequencing reads. It is written in C and runs in Linux. FastGT uses a list of variant-specific k-mer pairs that are unique in human genome, counts the frequency of k-mers in sequencing data and predicts t...Tags: FastGT, alignment-free, method, calling, common, SNVs, directly, raw, sequencing, reads, alignment-free
1574 days ago
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