Extending genome-wide association studies to copy-number variation
نویسندگان
چکیده
منابع مشابه
Extending genome-wide association studies to copy-number variation.
Appreciating the contribution of human genome copy-number variation (CNV) to clinical phenotypes is one of the compelling genetics challenges of the coming years. It is increasingly possible to pursue such investigations as an extension of genome-wide association studies (GWAS), enabled by innovations in the design and analysis of SNP (single nucleotide polymorphism) arrays and by progress in d...
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BACKGROUND/AIM Copy number variations (CNVs) are a major source of alterations among individuals and are a potential risk factor in many diseases. Numerous diseases have been linked to deletions and duplications of these chromosomal segments. Data from genome-wide association studies and other microarrays may be used to identify CNVs by several different computer programs, but the reliability o...
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Autism is a syndrome with a broad spectrum of phenotypes characterized by deficits in social interaction and communication, repetitive or stereotyped behaviors, and restricted interests (Rutter, 2005). Autism spectrum disorder (ASD) manifests mostly before 3 years of age (Klauck, 2006). ASDs include two related diagnoses; pervasive developmental disorder (PDD) including atypical autism, impairm...
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ژورنال
عنوان ژورنال: Human Molecular Genetics
سال: 2008
ISSN: 0964-6906,1460-2083
DOI: 10.1093/hmg/ddn282