Forget single pieces of the puzzle...this is like someone overturned a 5000 piece puzzle on your head. And, they are all from different puzzles. JR
SFARI Gene is a database built on information extracted from peer-reviewed scientific and clinical studies on the molecular genetics and biology of autism spectrum disorders (ASD).
SFARI Gene‘s main feature is a comprehensive list of candidate genes associated with ASD. The candidate genes are richly annotated for their relevance to autism. The site also provides an in-depth, current view of each gene‘s molecular function.
SFARI Gene is organized into interactive modules, which currently include Human Gene, Animal Model, Protein-Protein Interaction, and Copy Number Variant.
Copy Number Variant
An integrated catalogue of copy number variants
About CNV
The Copy Number Variant (CNV) module of SFARI Gene is a comprehensive, up-to-date collection of all copy number variants associated with autism spectrum disorders (ASD). It is integrated with other modules of SFARI Gene (Human Gene, Animal Model, Protein Interaction (PIN)).
CNVs are segments of DNA, typically > 1,000 basepairs in length, that vary in number from person to person. These submicroscopic deletions and duplications are increasingly thought to be involved in the pathogenesis of a wide range of human diseases, including neuropsychiatric disorders such as ASD. CNVs are currently considered to be one of the most common, if not the most common, genetic causes of ASD, with 10-20% of cases believed to result from one or more copy number variants in the genome of an affected individual*. For this reason, the CNV module is envisioned to serve as a valuable resource for the ASD research community.
CNVs are segments of DNA, typically > 1,000 basepairs in length, that vary in number from person to person. These submicroscopic deletions and duplications are increasingly thought to be involved in the pathogenesis of a wide range of human diseases, including neuropsychiatric disorders such as ASD. CNVs are currently considered to be one of the most common, if not the most common, genetic causes of ASD, with 10-20% of cases believed to result from one or more copy number variants in the genome of an affected individual*. For this reason, the CNV module is envisioned to serve as a valuable resource for the ASD research community.
*Miles JH, McCathren RB, Stichter J,and Shinawi M. Autism Spectrum Disorders In: Pagon RA, Bird TD, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2003 Aug 27 [updated 2010 Apr 13]. PubMed
. While at least one de novo copy number variant has been detected on all 22 somatic chromosomes and the X chromosome in autistic populations present in the SFARI Gene CNV module, certain chromosomes--in particular chromosomes 15 and 16--appear to be enriched in de novo copy number variants.
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