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@bioinform

The Bioinformatics Repository

A bioinformatics repository led by Roche Sequencing Solutions

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  1. somaticseq somaticseq Public

    An ensemble approach to accurately detect somatic mutations using SomaticSeq

    Python 193 53

  2. neusomatic neusomatic Public

    NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection

    Python 168 51

  3. rnacocktail rnacocktail Public

    Jupyter Notebook 88 48

  4. varsim varsim Public

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

    Java 79 31

  5. metasv metasv Public

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

    Python 54 21

  6. breakseq2 breakseq2 Public

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

    Python 24 5

Repositories

Showing 10 of 19 repositories
  • varsim Public

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

    bioinform/varsim’s past year of commit activity
    Java 79 BSD-2-Clause 31 36 5 Updated Oct 3, 2024
  • somaticseq Public

    An ensemble approach to accurately detect somatic mutations using SomaticSeq

    bioinform/somaticseq’s past year of commit activity
    Python 193 BSD-2-Clause 53 6 0 Updated Aug 11, 2024
  • SeqLib Public Forked from walaj/SeqLib

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

    bioinform/SeqLib’s past year of commit activity
    C++ 0 37 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.

    bioinform/ichorCNA’s past year of commit activity
    R 0 GPL-3.0 89 0 1 Updated Sep 22, 2022
  • bwa Public Forked from walaj/bwa

    Burrow-Wheeler Aligner for pairwise alignment between DNA sequences

    bioinform/bwa’s past year of commit activity
    C 1 Apache-2.0 564 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

    bioinform/fermi-lite’s past year of commit activity
    C 0 MIT 23 0 0 Updated Jan 16, 2022
  • Daedalus Public
    bioinform/Daedalus’s past year of commit activity
    C++ 1 0 0 0 Updated Jan 6, 2022
  • neusomatic Public

    NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection

    bioinform/neusomatic’s past year of commit activity
    Python 168 51 22 8 Updated Dec 23, 2021
  • swifr Public
    bioinform/swifr’s past year of commit activity
    C++ 3 1 0 0 Updated Oct 25, 2021
  • ecTMB Public
    bioinform/ecTMB’s past year of commit activity
    R 19 10 4 0 Updated Aug 22, 2021
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