3681 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...2197 days ago
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...2937 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...2231 days ago
2103 days ago