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@bioinform

The Bioinformatics Repository

A bioinformatics repository led by Roche Sequencing Solutions

Popular repositories Loading

  1. somaticseq somaticseq Public

    An ensemble approach to accurately detect somatic mutations using SomaticSeq

    Python 197 53

  2. neusomatic neusomatic Public

    NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection

    Python 170 50

  3. rnacocktail rnacocktail Public

    Jupyter Notebook 89 48

  4. varsim varsim Public

    VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications

    Java 82 32

  5. metasv metasv Public

    MetaSV: An accurate and integrative structural-variant caller for next generation sequencing

    Python 55 21

  6. breakseq2 breakseq2 Public

    BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants

    Python 24 5

Repositories

Showing 10 of 19 repositories
  • somaticseq Public

    An ensemble approach to accurately detect somatic mutations using SomaticSeq

    Python 197 BSD-2-Clause 53 6 0 Updated Mar 20, 2025
  • varsim Public

    VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications

    Java 82 BSD-2-Clause 32 36 5 Updated Oct 3, 2024
  • SeqLib Public Forked from walaj/SeqLib

    C++ htslib/bwa-mem/fermi interface for interrogating sequence data

    C++ 0 38 0 0 Updated Feb 4, 2023
  • ichorCNA Public Forked from GavinHaLab/ichorCNA

    Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.

    R 0 GPL-3.0 88 0 1 Updated Sep 22, 2022
  • bwa Public Forked from walaj/bwa

    Burrow-Wheeler Aligner for pairwise alignment between DNA sequences

    C 1 Apache-2.0 561 0 0 Updated Jan 16, 2022
  • fermi-lite Public Forked from walaj/fermi-lite

    Standalone C library for assembling Illumina short reads in small regions

    C 0 MIT 23 0 0 Updated Jan 16, 2022
  • Daedalus Public
    C++ 1 0 0 0 Updated Jan 6, 2022
  • neusomatic Public

    NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection

    Python 170 50 22 8 Updated Dec 23, 2021
  • swifr Public
    C++ 3 1 0 0 Updated Oct 25, 2021
  • ecTMB Public
    R 19 10 4 0 Updated Aug 22, 2021

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