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Congenica's Projects

bio-db-hts icon bio-db-hts

Git repo for Bio::DB::HTS module on CPAN, providing Perl links into HTSlib

clinvar icon clinvar

This repo provides tools to convert ClinVar data into a tab-delimited flat file, and also provides that resulting tab-delimited flat file.

cyvcf icon cyvcf

A fast Python library for VCF files leveraging Cython for speed.

denovogear icon denovogear

A program to detect denovo-variants using next-generation sequencing data. (http://www.nature.com/nmeth/journal/v10/n10/full/nmeth.2611.html)

maxentscan icon maxentscan

Maxentscan: Splice site scoring http://genes.mit.edu/burgelab/maxent/Xmaxentscan_scoreseq.html

ncov2019-artic-nf icon ncov2019-artic-nf

A Nextflow pipeline for running the ARTIC network's fieldbioinformatics tools (https://github.com/artic-network/fieldbioinformatics), with a focus on ncov2019

pysam icon pysam

Pysam is a Python module for reading and manipulating SAM/BAM/VCF/BCF files. It's a lightweight wrapper of the htslib C-API, the same one that powers samtools, bcftools, and tabix.

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