barslmn's repositories

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barsite

personal website

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bcftools

This is the official development repository for BCFtools. See installation instructions and other documentation here http://samtools.github.io/bcftools/howtos/install.html

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bioscripts

Collection of tiny scripts for various bioinformatics stuff

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ceph-dnm-manuscript

Code used for figure generation and statistical analysis for https://elifesciences.org/articles/46922

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cross-symbol-checker

Cross check RefSeq and Ensembl annotation sources for HGNC Symbols

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dove

DOwnstream Vcf Evaluation

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st

suckless simple terminal fork

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chords

helper for finding chords

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ClassifyCNV

ClassifyCNV: a tool for clinical annotation of copy-number variants

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dotfiles

dotfiles

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hgnc-data

hgnc data archive from their ftp

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linkageplot

plot result of easy linkage

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org-roam-ui

A graphical frontend for exploring your org-roam Zettelkasten

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picus

Pointed Interpretation of Clinical Variant Significance

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sarek

Analysis pipeline to detect germline or somatic variants (pre-processing, variant calling and annotation) from WGS / targeted sequencing

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sci-pub

Federated scientific paper publishing framework

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seqr

web-based analysis tool for rare disease genomics

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seqr-loading-pipelines

hail-based pipelines for annotating variant callsets and exporting them to elasticsearch

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seqr-reporting

Reporting module for seqr

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sn

simple note taking with dmenu and cron reminders.

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vcf2tsv

Awk script for parsing vcf

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vesta

tool for pedigree

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