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Shared Genomic Segment Analysis: The Power to Find Rare Disease Variants

Shared genomic segment (SGS) analysis is a method that uses dense SNP genotyping in high-risk pedigrees to identify regions of sharing between cases. Here, we illustrate the power of SGS to identify dominant rare risk variants. Using simulated pedigrees, we consider 12 disease models based on diseas...

Ausführliche Beschreibung

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Bibliographische Detailangaben
Hauptverfasser: Knight, Stacey, Abo, Ryan P, Abel, Haley J, Neklason, Deborah W, Tuohy, Therese M, Burt, Randall W, Thomas, Alun, Camp, Nicola J
Format: Artigo
Sprache:Inglês
Veröffentlicht: 2012
Schlagworte:
Online Zugang:https://ncbi.nlm.nih.gov/pmc/articles/PMC3879794/
https://ncbi.nlm.nih.gov/pubmed/22989048
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1111/j.1469-1809.2012.00728.x
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