atgenomix / deepvariant-on-spark
DeepVariant-on-Spark is a germline short variant calling pipeline that runs Google DeepVariant on Apache Spark at scale.
☆12Updated 2 years ago
Related projects ⓘ
Alternatives and complementary repositories for deepvariant-on-spark
- Accurate Typing of Human Leukocyte Antigen (HLA) by Oxford Nanopore Sequencing☆15Updated 6 years ago
- pathoscore evaluates variant pathogenicity tools and scores.☆21Updated 2 years ago
- ☆12Updated last year
- filtering trio-based genetic variants in VCFs for clinical review☆20Updated 4 years ago
- Aggregation and analyses of rare CNVs across diseases☆14Updated last year
- Simplify snpEff annotations for interesting cases☆21Updated 5 years ago
- Samwell: a python package for using genomic files... well☆19Updated 2 years ago
- add true-negative SVs from a population callset to a truth-set.☆15Updated 2 years ago
- Software for detecting transposable element insertions from next-generation sequencing data☆14Updated 3 years ago
- The OpEx (Optimised Exome) pipeline☆9Updated 6 years ago
- Somatic (mosaic) SNV caller for 10X Genomics data using random forest classification and feature-based filters☆24Updated 5 years ago
- Portable WDL workflows for IDseq production pipelines☆31Updated 2 years ago
- programs and scripts, mainly python, for analyses related to nucleic or protein sequences☆24Updated 2 months ago
- This BLENDER has been sunsetted☆16Updated last month
- WES HLA Typing based on multiple alternative tools☆15Updated 3 years ago
- WDL workflow for population variant calling using htsget, DeepVariant, and GLnexus☆10Updated 6 years ago
- A wrapper for calling small variants from human germline high-coverage single-sample Illumina data☆13Updated 5 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- GenoTypes Compressor☆15Updated 2 years ago
- Intersect multiple VCF files with haplotype awareness☆25Updated 3 years ago
- A toolkit to design standard primers, multiplexed primers, and primers around SV's☆12Updated 2 years ago
- Detect somatic variants from tumor and normal WGS/WXS data☆15Updated last month
- ☆30Updated 3 years ago
- VCF files of SVs using long-read sequencing (LRS).☆21Updated 2 years ago
- A Framework to call Structural Variants from NGS based datasets☆21Updated 6 years ago
- Whole Exome/Whole Genome Sequencing alignment pipeline☆28Updated last month
- A webtool for the clinical interpretation of CNVs in rare disease patients☆12Updated 2 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- Annotating principal splice isoforms☆14Updated last month
- Sample Contamination Estimate from VCF☆19Updated this week
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 years ago