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 1

2. ExpansionHunter ExpansionHunter Public

   Forked from Illumina/ExpansionHunter

   This fork of Illumina/ExpansionHunter introduces new features and optimizations

   C++ 12 1

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

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

   Python 41 10

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

   A tool for diagnosing SMA in 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 17 1

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 8