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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Bibliographic Details
Main Authors: Puffenberger, Erik G., Jinks, Robert N., Sougnez, Carrie, Cibulskis, Kristian, Willert, Rebecca A., Achilly, Nathan P., Cassidy, Ryan P., Fiorentini, Christopher J., Heiken, Kory F., Lawrence, Johnny J., Mahoney, Molly H., Miller, Christopher J., Nair, Devika T., Politi, Kristin A., Worcester, Kimberly N., Setton, Roni A., DiPiazza, Rosa, Sherman, Eric A., Eastman, James T., Francklyn, Christopher, Robey-Bond, Susan, Rider, Nicholas L., Gabriel, Stacey, Morton, D. Holmes, Strauss, Kevin A.
Format: Online
Language:English
Published: Public Library of Science 2012
Online Access:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260153/

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https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3260153/

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