broadinstitute / seqr-loading-pipelines
hail-based pipelines for annotating variant callsets and exporting them to elasticsearch
☆23Updated last week
Alternatives and similar repositories for seqr-loading-pipelines:
Users that are interested in seqr-loading-pipelines are comparing it to the libraries listed below
- gnomAD browser pre-ASHG 2018☆33Updated 4 years ago
- filtering trio-based genetic variants in VCFs for clinical review☆21Updated 4 years ago
- TOPMed Freeze 3 variant calling pipeline☆9Updated 6 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Updated 6 years ago
- CLAMMS is a scalable tool for detecting common and rare copy number variants from whole-exome sequencing data.☆29Updated 3 years ago
- Genomes on the Cloud, Mapping & Variant Calling Pipelines☆33Updated 7 years ago
- QC3, a quality control tool designed for DNA sequencing data for raw data, alignment, and variant calling.☆31Updated 8 years ago
- utilities for working with IGV: opening files remotely in either desktop IGV or a web viewer (igv.js), creating screenshots, etc.☆48Updated 5 years ago
- Website to analyze conflicting assertions in ClinVar☆17Updated 11 months ago
- Preprocessing tools for unique molecular index (UMI) sequencing reads☆31Updated last year
- smCounter: a versatile UMI-aware variant caller to detect both somatic and germline SNVs and indels. Published in article "Detecting very…☆20Updated 5 years ago
- fast webservices based query tool for large sets of genomic features☆25Updated last year
- ☆23Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆15Updated last year
- An automated RNA-seq pipeline using Nextflow☆37Updated 4 months ago
- Parse samtools pileup file to get how many bases and what kind of bases are called☆14Updated 9 months ago
- Python package and routines for merging VCF files☆29Updated 3 years ago
- an empirical Bayesian framework for mutation detection from cancer genome sequencing data☆31Updated 8 years ago
- Samwell: a python package for using genomic files... well☆19Updated 2 years ago
- SEQSpark documentation☆18Updated 4 years ago
- create a gemini-compatible database from a VCF☆56Updated 4 years ago
- Pipeline for structural variation detection in cohorts☆49Updated 3 years ago
- Automated human exome/genome variants detection from FASTQ files☆22Updated 3 years ago
- GARFIELD-NGS: Genomic vARiants FIltering by dEep Learning moDels in NGS☆17Updated 5 years ago
- Keep Me Around: Intron Retention Detection☆29Updated 6 years ago
- A nextflow implementation of Kallisto & Sleuth RNA-Seq Tools☆22Updated 6 years ago
- ALOFT, the Annotation Of Loss-of-Function Transcripts, provides extensive functional annotations to loss-of-function variants in the hum…☆19Updated 5 years ago
- BigWig manpulation tools using libBigWig and htslib☆28Updated 5 months ago
- VisCap is an open flexible, software program targeted to clinical laboratories for inference and visualization of germline copy number va…☆22Updated 5 years ago
- Tools for next-generation sequencing analysis☆88Updated 5 years ago