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gene-panels

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CNV analysis based on the depth of coverage of Illumina data

  • UpdatedSep 5, 2024
  • Python

Simple perl script to extract mappability from a ROI file

  • UpdatedSep 24, 2019
  • Perl

GUI coupled to a local database that centralize all NGS variant data and annotations, and to provide powerful filtering tools that are easily accessible to the biologist.

  • UpdatedJan 13, 2025
  • Java

Integrated analysis of Structural and Copy Number Variants on clinical targeted sequencing data

  • UpdatedOct 27, 2022
  • Perl

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