bihealth / digestiflow-server

Related projects: ⓘ

• Yandell-Lab / VVP-pub
  VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants
  ☆19Updated 6 years ago
• jeremymcrae / clinical-filter
  filtering trio-based genetic variants in VCFs for clinical review
  ☆20Updated 4 years ago
• monarch-initiative / Squirls
  Interpretable prioritization of splice variants in diagnostic next-generation sequencing
  ☆15Updated 4 months ago
• ASaiM / framework
  Open-source opinionated Galaxy-based framework for microbiota analysis
  ☆14Updated 3 years ago
• TheJacksonLaboratory / LIRICAL
  LIkelihood Ratio Interpretation of Clinical AbnormaLities
  ☆22Updated 2 months ago
• brentp / geneimpacts
  prioritize effects of variant annotations from VEP, SnpEff, et al.
  ☆33Updated 6 months ago
• TheJacksonLaboratory / CloudNeo
  CWL implementation of CloudNeo: A cloud pipeline for identifying patient-specific tumor neoantigens
  ☆19Updated 5 years ago
• macarthur-lab / gnomad_browser
  gnomAD browser pre-ASHG 2018
  ☆33Updated 3 years ago
• gedoardo83 / GARFIELD-NGS
  GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS
  ☆17Updated 5 years ago
• personalis / hgvslib
  hgvslib provides functions to parse and compare the equivalency of variant strings described according to Human Genome Variation Society …
  ☆18Updated last year
• rhshah / iCallSV
  A Framework to call Structural Variants from NGS based datasets
  ☆21Updated 6 years ago
• mutalyzer / description-extractor
  HGVS variant description extractor
  ☆11Updated 4 years ago
• bcbio / bcbio.variation.recall
  Parallel merging, squaring off and ensemble calling for genomic variants
  ☆20Updated 5 years ago
• biopet / biopet
  Biopet docs
  ☆17Updated 6 years ago
• eilbecklab / clinvar-miner
  Website to analyze conflicting assertions in ClinVar
  ☆16Updated 7 months ago
• ImperialCardioGenetics / frequencyFilter
  Allele frequency filtering for Mendelian variant discovery
  ☆17Updated 7 years ago
• Clinical-Genomics / chanjo
  Chanjo provides a better way to analyze coverage data in clinical sequencing.
  ☆49Updated 3 months ago
• SACGF / cdot
  Transcript versions for HGVS libraries
  ☆29Updated 2 weeks ago
• robinandeer / puzzle
  Variant caller GUI + genetic disease analysis
  ☆22Updated 4 years ago
• KCCG / seave
  Seave is a web platform that enables genetic variants to be easily filtered and annotated with in silico pathogenicity prediction scores …
  ☆15Updated 6 years ago
• AstraZeneca-NGS / simple_sv_annotation
  Simplify snpEff annotations for interesting cases
  ☆21Updated 5 years ago
• jamesware / alleleFrequencyApp
  Allele frequency filter app
  ☆14Updated 2 years ago
• bbglab / muts-needle-plot
  A needle plot for mutation data
  ☆26Updated 7 years ago
• myriad-opensource / samwell
  Samwell: a python package for using genomic files... well
  ☆19Updated 2 years ago
• aryeelab / umi
  Preprocessing tools for unique molecular index (UMI) sequencing reads
  ☆31Updated last year
• dnanexus / dx-cwl
  Import and run CWL workflows on DNAnexus (alpha)
  ☆13Updated 6 years ago
• rgcgithub / clamms
  CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.
  ☆28Updated 3 years ago
• sigven / cacao
  Callable Cancer Loci - assessment of sequencing coverage for actionable and pathogenic loci in cancer
  ☆21Updated 3 years ago
• AstraZeneca / detectIS
  A pipeline to rapidly detect exogenous DNA integration sites using DNA or RNA paired-end sequencing data
  ☆10Updated last year
• Illumina / witty.er
  What is true, thank you, ernestly. A large variant benchmarking tool analogous to hap.py for small variants.
  ☆28Updated last year