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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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Detalles Bibliográficos
Autores principales: Lal, Dennis, Neubauer, Bernd A., Toliat, Mohammad R., Altmüller, Janine, Thiele, Holger, Nürnberg, Peter, Kamrath, Clemens, Schänzer, Anne, Sander, Thomas, Hahn, Andreas, Nothnagel, Michael
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Public Library of Science 2016
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4720433/
https://www.ncbi.nlm.nih.gov/pubmed/26789268
http://dx.doi.org/10.1371/journal.pone.0146040