variants topic

List variants repositories

variantkey

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Numerical Encoding for Human Genetic Variants

MTBseq_source

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MTBseq is an automated pipeline for mapping, variant calling and detection of resistance mediating and phylogenetic variants from illumina whole genome sequence data of Mycobacterium tuberculosis comp...

manifesto

18
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Manifesto is an HLS tool for creating multiple variants, a master.m3u8 file, and converting 608 captions to segmented webvtt subtitles via ffmpeg.

my_boards

16
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1
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My Arduino boards custom variants. You can use it as starting point for your boards specialities.

phenomenet-vp

36
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13
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A phenotype-based tool for variant prioritization in WES and WGS data

vcf_stuff

26
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3
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📊Evaluating, filtering, comparing, and visualising VCF

react-cva

19
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1
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Class Variance Authority helper for react

ClairS-TO

43
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3
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ClairS-TO - a deep-learning method for tumor-only somatic variant calling

HiPhase

62
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4
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Small variant, structural variant, and short tandem repeat phasing tool for PacBio HiFi reads

rare-disease-wf

56
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8
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(WIP) best-practices workflow for rare disease