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Haplotype counting script

Authors: Petra Bulankova;

Haplotype counting script

Abstract

A simple script for counting of a number of haplotypes formed by pre-selected SNPs in long-read sequencing data. The number of haplotypes is counted per 1kb in individual long sequencing reads aligned to a reference, based on the position, reference and alternative alleles of reliable SNPs called on short-read sequencing data Required input files: - processed long sequencing reads aligned to the reference and split per chromosome/contig into individual files - the names must correspond with the respective vcf files - vcf files with reliable biallelic SNPs split per chromosome/contig into individual files - the names must correspond with the respective bam files - file with names for each chromosome/contig - has to be the same as names for bam and vcf files Required software: - Java version 1.8 or higher - downloaded and compiled sam2tsv.jar from jvarkit https://github.com/lindenb/jvarkit

This work was supported by Erwin Schrödinger fellowship from Austrian Science Fund (FWF) (project number J3692-B22)

Keywords

haplotype counting, long read sequencing, SNP, bash

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popularity
This indicator reflects the "current" impact/attention (the "hype") of an article in the research community at large, based on the underlying citation network.
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influence
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