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JiguangPeng/README.md

Hi there

I’m currently working on genetic testing for disease screening and diagnosis

  • Non-Invasive Prenatal Screening Testing (NIPT)
  • WGS/WES for Mendelian Disorder Diagnosis
  • Preimplantation Genetic Testing (PGT-A, PGT-M, PGT-SR, PGT-P)
  • Automation of Variant Pathogenicity Curatio (e.g. ACMG Guideline)
  • Cloud Computing in Bioinformatics
  • Cutting-edge Technology in Genetic Diagnosis (T2T-CHM13、stLFR、eccDNA)

Pinned

  1. autopvs1 autopvs1 Public

    An automatic classification tool for PVS1 interpretation of null variants

    Python 30 17

  2. odds_ratio odds_ratio Public

    Demo项目 Odds Ratio Calculator

    Python 1

  3. one-python-craftsman one-python-craftsman Public

    Forked from piglei/one-python-craftsman

    来自一位 Pythonista 的编程经验分享,内容涵盖编码技巧、最佳实践与思维模式等方面。

    1

  4. Awesome-Bioinformatics Awesome-Bioinformatics Public

    Forked from danielecook/Awesome-Bioinformatics

    A curated list of awesome Bioinformatics libraries and software.

  5. my-git my-git Public

    Forked from xirong/my-git

    Individual collecting material of learning git(有关 git 的学习资料)