Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Increased Probability of Co-Occurrence of Two Rare Diseases in Consanguineous Families and Resolution of a Complex Phenotype by Next Generation Sequencing.

Massively parallel sequencing of whole genomes and exomes has facilitated a direct assessment of causative genetic variation, now enabling the identification of genetic factors involved in rare diseases (RD) with Mendelian inheritance patterns on an almost routine basis. Here, we describe the illust...

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Bibliographic Details
Main Authors: Dennis Lal, Bernd A Neubauer, Mohammad R Toliat, Janine Altmüller, Holger Thiele, Peter Nürnberg, Clemens Kamrath, Anne Schänzer, Thomas Sander, Andreas Hahn, Michael Nothnagel
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2016-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC4720433?pdf=render

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http://europepmc.org/articles/PMC4720433?pdf=render

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