Pinned Loading

1. step-pipeline step-pipeline Public

   This library provides a thin wrapper API around Hail Batch that adds features like skipping steps whose output files have already been generated, additional options for localizing files, notificati…

   Python

2. ExpansionHunter ExpansionHunter Public

   Forked from Illumina/ExpansionHunter

   This fork of Illumina/ExpansionHunter introduces new features and optimizations

   C++ 7

3. broadinstitute/str-analysis broadinstitute/str-analysis Public

   Scripts and utilities related to analyzing short tandem repeats (STRs).

   Python 36 9

4. broadinstitute/sma-finder broadinstitute/sma-finder Public

   A tool for diagnosing SMA using exome, genome or targeted sequencing data

   Python 11 1

5. broadinstitute/tandem-repeat-catalog broadinstitute/tandem-repeat-catalog Public

   Genome-wide TR catalog and variation clusters described in [Weisburd, Dolzhenko, et al. 2024]

   Python 9

6. broadinstitute/str-truth-set broadinstitute/str-truth-set Public

   Genome-wide tandem repeat (TR) truth set based on the Synthetic Diploid Benchmark [Li et al. 2018]

   Python 6