A flexible computational pipeline for research analyses of unsolved clinical exome cases

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Abstract Exome sequencing has enabled molecular diagnoses for rare disease patients but often with initial diagnostic rates of ~25−30%. Here we develop a robust computational pipeline to rank variants for reassessment of unsolved rare disease patients. A comprehensive web-based patient report is gen...

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Auteurs principaux: Timo Lassmann, Richard W. Francis, Alexia Weeks, Dave Tang, Sarra E. Jamieson, Stephanie Broley, Hugh J. S. Dawkins, Lauren Dreyer, Jack Goldblatt, Tudor Groza, Benjamin Kamien, Cathy Kiraly-Borri, Fiona McKenzie, Lesley Murphy, Nicholas Pachter, Gargi Pathak, Cathryn Poulton, Amanda Samanek, Rachel Skoss, Jennie Slee, Sharron Townshend, Michelle Ward, Gareth S. Baynam, Jenefer M. Blackwell
Format: article
Langue:EN
Publié: Nature Portfolio 2020
Sujets:
Medicine
R
Genetics
QH426-470
Accès en ligne:https://doaj.org/article/811cb355cf5b4897b431fd467c9f3752
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Internet

https://doaj.org/article/811cb355cf5b4897b431fd467c9f3752

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