Genetic mapping and exome sequencing identify variants associated with five novel diseases.

Genetic mapping and exome sequencing identify variants associated with five novel diseases.

The Clinic for Special Children (CSC) has integrated biochemical and molecular methods into a rural pediatric practice serving Old Order Amish and Mennonite (Plain) children. Among the Plain people, we have used single nucleotide polymorphism (SNP) microarrays to genetically map recessive disorders...

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Main Authors: Erik G Puffenberger, Robert N Jinks, Carrie Sougnez, Kristian Cibulskis, Rebecca A Willert, Nathan P Achilly, Ryan P Cassidy, Christopher J Fiorentini, Kory F Heiken, Johnny J Lawrence, Molly H Mahoney, Christopher J Miller, Devika T Nair, Kristin A Politi, Kimberly N Worcester, Roni A Setton, Rosa Dipiazza, Eric A Sherman, James T Eastman, Christopher Francklyn, Susan Robey-Bond, Nicholas L Rider, Stacey Gabriel, D Holmes Morton, Kevin A Strauss
Format: Article
Language:English
Published: Public Library of Science (PLoS) 2012-01-01
Series:PLoS ONE
Online Access:http://europepmc.org/articles/PMC3260153?pdf=render

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