Genome sequencing data analysis for rare disease gene discovery

Umm-Kulthum Ismail Umlai, Dhinoth Kumar Bangarusamy, Xavier Estivill, Puthen Veettil Jithesh. Genome sequencing data analysis for rare disease gene discovery. Briefings in Bioinformatics, 23(1), 2022. [doi]

@article{UmlaiBEJ22,
  title = {Genome sequencing data analysis for rare disease gene discovery},
  author = {Umm-Kulthum Ismail Umlai and Dhinoth Kumar Bangarusamy and Xavier Estivill and Puthen Veettil Jithesh},
  year = {2022},
  doi = {10.1093/bib/bbab363},
  url = {https://doi.org/10.1093/bib/bbab363},
  researchr = {https://researchr.org/publication/UmlaiBEJ22},
  cites = {0},
  citedby = {0},
  journal = {Briefings in Bioinformatics},
  volume = {23},
  number = {1},
}