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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Bibliographic Details
Main Authors: 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
Language:English
Published: Nature Publishing Group 2020-12-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-020-00161-w

Internet

https://doi.org/10.1038/s41525-020-00161-w

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