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NGS Chew

Project description

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NGS Chew

"Tasty, tasty NGS Data!"

NGS Chew is a growing toolbox of software for running quality control and sanity checks on NGS. NGS chew can:

  • Create a variant fingerprint file from BAM and VCF/BCF files.
    • The fingerprint files are store efficiently as compressed numpy arrays.
    • Optionally, allele balance information can be stored which enables advanced analysis downstream.
  • Compare such fingerprint files to others to detect sample swaps and cryptic relationships.
  • Analyze balance-enhanced fingerprint files for detecting cross-sample contamination.

Quickstart

The following will create a sample.npz fingerprint file from the given BAM file.

ngs-chew fingerprint \
    --reference REFERENCE.fasta \
    --output-fingerprint sample.npz \
    --input-bam INPUT.bam \
    --genome-release GRCh37

Changelog

0.9.4 (2024-02-21)

Bug Fixes

  • issue with truthiness of numpy array (#70) (698d2a0)

0.9.3 (2024-02-19)

Bug Fixes

0.9.2 (2024-01-10)

Bug Fixes

0.9.1 (2024-01-10)

Bug Fixes

  • remove versioneer (Python 3.12+) (#58) (0b3876e)

0.9.0 (2024-01-09)

Features

Bug Fixes

Documentation

0.8.1 (2023-07-18)

Bug Fixes

0.8.0 (2023-01-16)

Features

0.7.1 (2023-01-10)

Bug Fixes

0.7.0 (2023-01-10)

Features

  • collect chrX SNP information for sex identification (#12) (#15) (b210312)
  • gather samtools idxstats output (#13) (aafa3cf)
  • interpret samtools idxstats output (#18) (50cd8fd)
  • using coding regions for chrX sites (#20) (#21) (6c50688)
  • write out ngs-chew version to header (#19) (c0f2de5)

Bug Fixes

  • use actual peddy formulat for relatedness (#17) (cea0b6c)

0.6.0 (2023-01-02)

Features

  • allow writing allele fraction to fingerprint file (#7) (76f1511)

Bug Fixes

  • formula for relatedness was off by *2 (#9) (3550dfb)

0.5.1 (2022-12-21)

Bug Fixes

  • fix for the setup.py based build (#4) (255c848)

0.5.0 (2022-12-21)

Features

v0.4.0

  • Adding plot_var_het.

v0.3.0

  • Adding option for writing out VCF file in fingerprinting.
  • Adding command plot_aab command for visualizing B allele frequency from VCF files.

v0.2.0

  • Adding plot_compare command.

v0.1.1

  • Adding --version argument.

v0.1.0

  • Everything is new.

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