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Scan-Statistic Approach Identifies Clusters of Rare Disease Variants in LRP2, a Gene Linked and Associated with Autism Spectrum Disorders, in Three Datasets

Cluster-detection approaches, commonly used in epidemiology and astronomy, can be applied in the context of genetic sequence data for the identification of genetic regions significantly enriched with rare disease-risk variants (DRVs). Unlike existing association tests for sequence data, the goal of...

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Autors principals: Ionita-Laza, Iuliana, Makarov, Vlad, Buxbaum, Joseph D.
Format: Artigo
Idioma:Inglês
Publicat: Elsevier 2012
Matèries:
Accés en línia:https://ncbi.nlm.nih.gov/pmc/articles/PMC3370275/
https://ncbi.nlm.nih.gov/pubmed/22578327
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1016/j.ajhg.2012.04.010
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