eberle

eberle's Stars

• MariaNattestad/Ribbon

  A genome browser designed for complex structural variants and long reads.

  Language:JavaScript270156629

• Illumina/ExpansionHunter

  A tool for estimating repeat sizes

  Language:C++1833011851

• Illumina/paragraph

  Graph realignment tools for structural variants

  Language:C++154197428

• PacificBiosciences/trgt

  Tandem repeat genotyping and visualization from PacBio HiFi data

  Language:Rust10730469

• Illumina/PlatinumGenomes

  The Platinum Genomes Truthset

  8510159

• Illumina/ExpansionHunterDenovo

  A suite of tools for detecting expansions of short tandem repeats

  Language:C++80154825

• genome-in-a-bottle/giab_latest_release

  This repository contains information about latest release from Genome in a Bottle project

  7313185

• Illumina/Cyrius

  A tool to genotype CYP2D6 with WGS data

  Language:Python4912365

• Illumina/SMNCopyNumberCaller

  A copy number caller for SMN1 and SMN2 to enable SMA diagnosis and carrier screening with WGS

  Language:Python49101113

• PacificBiosciences/paraphase

  HiFi-based caller for highly similar paralogous genes

  Language:Python367165

• Illumina/GraphAlignmentViewer

  Language:Python3511710