dnil

dnil's Stars

• astral-sh/uv

  An extremely fast Python package and project manager, written in Rust.

  Language:Rust44.3k885.6k1.2k

• igvteam/igv.js

  Embeddable genomic visualization component based on the Integrative Genomics Viewer

  Language:HTML665321.2k231

• jts/nanopolish

  Signal-level algorithms for MinION data

  Language:C++580351k160

• obophenotype/human-phenotype-ontology

  Ontology for the description of human clinical features

  Language:Makefile3052610.7k53

• Illumina/ExpansionHunter

  A tool for estimating repeat sizes

  Language:C++1893012152

• Clinical-Genomics/scout

  VCF visualization interface

  Language:HTML156132.8k48

• adamewing/methylartist

  Tools for plotting methylation data in various ways

  Language:Python141410811

• biowasm/aioli

  Framework for building fast genomics web tools with WebAssembly and WebWorkers

  Language:JavaScript11231910

• Clinical-Genomics/genmod

  Annotate models of genetic inheritance patterns in variant files (vcf files)

  Language:Python791011019

• Illumina/SMNCopyNumberCaller

  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

  Language:Python49101113

• J35P312/SVDB

  structural variant database software

  Language:Python4194817

• Clinical-Genomics/stranger

  Tool to annotate outfiles from ExpansionHunter and TRGT with the pathologic implications of the repeat

  Language:Python326406

• Clinical-Genomics-Lund/gens

  Language:JavaScript135835

• dnil/rhocall

  Call regions of homozygosity and make tentative UPD calls

  Language:Python113143

• robinandeer/chanjo-report

  Report generator for Chanjo output

  Language:Python102276

• Clinical-Genomics/cg

  Glue between Clinical Genomics apps

  Language:Python981.2k3

• Clinical-Genomics/trailblazer

  Keep track of and manage analyses

  Language:Python661142

• mikaell/chromograph

  Genetics graphing tool

  Language:Python62212

• Clinical-Genomics/reference-files

  Small reference files

  Language:Lua57122

• Clinical-Genomics/fluffy

  FetaL AneUploidy and FetalFraction analYsis Pipeline

  Language:Python340

• J35P312/SMELT

  a slurm wrapper for the melt tool

  Language:Perl21

• jessada/hbvdb_tools

  Language:Shell2301

• moonso/query_phenomizer

  Command line script for querying the phenomizer tool with HPO terms

  Language:Python2133

• NBISweden/vcf2cytosure

  Convert VCF with structural variations to CytoSure format

  Language:Python235363

• Clinical-Genomics/gens

  Language:JavaScript14370

• Clinical-Genomics/phenopacket-api

  Phenopacket API UDNI tip2toe backend for deep phenotyping

  Language:TypeScript1

• Clinical-Genomics/udni-tip2toe

  UDNI tip2toe deep phenotyping frontend

  Language:Java1

• fc-io/Scout-REViewer-service

  A rest service for generating REViewer output.

  Language:Python1100

• squeezeday/phenopacket-api

  Language:TypeScript1204

• squeezeday/udni-tip2toe

  Language:Java1114