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    • An ensemble approach to accurately detect somatic mutations using SomaticSeq
      Python
      BSD 2-Clause "Simplified" License
      5319560Updated Dec 16, 2024Dec 16, 2024
    • varsim

      Public
      VarSim: A high-fidelity simulation validation framework for high-throughput genome sequencing with cancer applications
      Java
      BSD 2-Clause "Simplified" License
      3181365Updated Oct 3, 2024Oct 3, 2024
    • SeqLib

      Public
      C++ htslib/bwa-mem/fermi interface for interrogating sequence data
      C++
      Other
      36000Updated Feb 4, 2023Feb 4, 2023
    • ichorCNA

      Public
      Estimating tumor fraction in cell-free DNA from ultra-low-pass whole genome sequencing.
      R
      GNU General Public License v3.0
      89001Updated Sep 22, 2022Sep 22, 2022
    • bwa

      Public
      Burrow-Wheeler Aligner for pairwise alignment between DNA sequences
      C
      Apache License 2.0
      555100Updated Jan 16, 2022Jan 16, 2022
    • Standalone C library for assembling Illumina short reads in small regions
      C
      MIT License
      23000Updated Jan 16, 2022Jan 16, 2022
    • Daedalus

      Public
      C++
      Other
      0100Updated Jan 6, 2022Jan 6, 2022
    • NeuSomatic: Deep convolutional neural networks for accurate somatic mutation detection
      Python
      Other
      50168228Updated Dec 23, 2021Dec 23, 2021
    • swifr

      Public
      C++
      Other
      1300Updated Oct 25, 2021Oct 25, 2021
    • ecTMB

      Public
      R
      Other
      101940Updated Aug 22, 2021Aug 22, 2021
    • Jupyter Notebook
      Other
      488840Updated Nov 11, 2020Nov 11, 2020
    • C++
      GNU General Public License v3.0
      0210Updated Feb 3, 2020Feb 3, 2020
    • metasv

      Public
      MetaSV: An accurate and integrative structural-variant caller for next generation sequencing
      Python
      BSD 2-Clause "Simplified" License
      2155292Updated Jun 30, 2017Jun 30, 2017
    • longislnd

      Public
      LongISLND - Long In silico Sequencing of Lengthy and Noisy Datatypes
      Java
      Other
      4430Updated Apr 30, 2017Apr 30, 2017
    • IDP

      Public
      IDP is a statistical isoform prediction method to construct possible isoform candidates from the union of long reads and short reads with spliced alignment
      Python
      Other
      4700Updated Feb 23, 2017Feb 23, 2017
    • huref-gs

      Public
      0100Updated Feb 2, 2017Feb 2, 2017
    • breakseq2

      Public
      BreakSeq2: Ultrafast and accurate nucleotide-resolution analysis of structural variants
      Python
      BSD 2-Clause "Simplified" License
      52470Updated Mar 17, 2016Mar 17, 2016
    • LSC

      Public
      LSC is a long read error correction tool. It offers fast correction with high sensitivity and good accuracy.
      Python
      Other
      1610Updated Dec 10, 2014Dec 10, 2014
    • pindel

      Public
      Pindel can detect breakpoints of large deletions, medium sized insertions, inversions, tandem duplications and other structural variants at single-based resolution from next-gen sequence data. It uses a pattern growth approach to identify the breakpoints of these variants from paired-end short reads.
      C++
      GNU General Public License v3.0
      90100Updated Jun 20, 2014Jun 20, 2014