broadinstitute / seqr-loading-pipelinesView external linksLinks
hail-based pipelines for annotating variant callsets and exporting them to elasticsearch
☆23Feb 6, 2026Updated 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
Sorting:
- Allele frequency filtering for Mendelian variant discovery☆18Sep 27, 2016Updated 9 years ago
- Divine: Prioritizing Genes for Rare Mendelian Disease in Whole Exome Sequencing Data☆13Apr 18, 2019Updated 6 years ago
- ☆13May 2, 2018Updated 7 years ago
- Visualisation and prioritisation of genomic variants from human exome sequencing projects☆13Apr 23, 2019Updated 6 years ago
- dv-trio provides a pipeline to call variants for a trio (father-mother-child) using DeepVariants [1]. Genomic Variant Calling Files (gVCF…☆11Feb 3, 2021Updated 5 years ago
- Structural Variation breakpoint discovery via adaptive learning☆16Jul 6, 2023Updated 2 years ago
- Allele frequency filter app☆14May 4, 2022Updated 3 years ago
- web-based analysis tool for rare disease genomics☆200Updated this week
- ☆35Mar 2, 2021Updated 4 years ago
- Integrated Variant Caller☆17Mar 15, 2018Updated 7 years ago
- VVP (VAAST Variant Prioritizer) rapidly prioritizes genetic variants☆19Mar 10, 2018Updated 7 years ago
- The open-source version of PhenoTips is no longer maintained. PhenoTips makes it simple to record clinical findings observed in patients …☆104May 3, 2022Updated 3 years ago
- Variant to disease dataset workflows for Open Targets Genetics☆13Aug 23, 2022Updated 3 years ago
- Pan gGnome Viewer☆10Jul 10, 2025Updated 7 months ago
- WGS Pipeline☆13Jan 19, 2018Updated 8 years ago
- Sequence Bloom Trees with All/Some split☆11Oct 30, 2018Updated 7 years ago
- Repository for the family history/pedigree project☆13Feb 8, 2023Updated 3 years ago
- Open Targets Genetics UI☆15Jan 31, 2025Updated last year
- A visualization tool for Systems-Level Interactive Data Exploration☆12Jan 12, 2022Updated 4 years ago
- A phenotype-based tool for variant prioritization in WES and WGS data☆42Nov 21, 2022Updated 3 years ago
- SeqOthello supports fast coverage query and containment query.☆12May 8, 2019Updated 6 years ago
- Genomic VCF to tab-separated values☆48Mar 9, 2023Updated 2 years ago
- Curated list of resources for variant prioritization☆12Nov 18, 2025Updated 2 months ago
- ☆14Oct 29, 2021Updated 4 years ago
- Package to create MOVIE Plots☆12Oct 31, 2019Updated 6 years ago
- A tool to detect postzygotic single-nucleotide mosaicism from unpaired, trio, or paired samples.☆13Feb 23, 2021Updated 4 years ago
- A software toolkit for the interconversion of standard data models for phenotypic data☆15Dec 24, 2025Updated last month
- GBIF machine-readable resources☆15Jan 16, 2026Updated 3 weeks ago
- ☆13Dec 18, 2023Updated 2 years ago
- AWS Quick Start Team☆24Oct 3, 2024Updated last year
- Call regions of homozygosity and make tentative UPD calls☆12Jun 27, 2025Updated 7 months ago
- ☆11Dec 8, 2022Updated 3 years ago
- A simple observation count database☆11Jan 13, 2026Updated last month
- Nanopore plasmid pipeline (FAST5 basecalling, assembly, plasmid identification and antimicrobial resistance genes identification).☆13Apr 20, 2021Updated 4 years ago
- TeraPCA is a multithreaded C++ software suite based on Intel's MKL library (or any other BLAS and/or LAPACK distribution). TeraPCA featur…☆15Jul 25, 2022Updated 3 years ago
- Official code repository for JAX-CNV☆14Jan 16, 2020Updated 6 years ago
- A repository with scripts to run pipeline that are commonly used in the Meren Lab☆11Feb 7, 2018Updated 8 years ago
- Reference server implementation for the GA4GH HTSget API standard.☆12May 11, 2023Updated 2 years ago
- Linear time detection of Identity by Descent☆13Jul 22, 2011Updated 14 years ago