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SeqOne's Projects

clinvarome icon clinvarome

Project code to generate a comprehensive annotated clinvarome from variant alert outputs

clinvcf icon clinvcf

Generate an enhanced VCF files from ClinVar XML Full releases

docopt.nim icon docopt.nim

Command line arguments parser that will make you smile (port of docopt to Nim)

go-tus icon go-tus

A pure Go client for the tus resumable upload protocol

hmmer icon hmmer

HMMER: biological sequence analysis using profile HMMs

hts-nim icon hts-nim

nim wrapper for htslib for parsing genomics data files

kraf icon kraf

Kmer based Recalibration of Allele Frequency

mosdepth icon mosdepth

fast BAM/CRAM depth calculation for WGS, exome, or targeted sequencing

tusd icon tusd

Reference server implementation in Go of tus: the open protocol for resumable file uploads

variant_alert icon variant_alert

Variant Alert!, a framework to monitor every significant alteration in variant classification and gene-disease association between two versions of ClinVar database.

vt icon vt

A tool set for short variant discovery in genetic sequence data.

yq icon yq

yq is a portable command-line YAML processor

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