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zCall: a rare variant caller for array-based genotyping: genetics and population analysis.
Bioinformatics. 2012 Oct 1;28(19):2543-5. doi: 10.1093/bioinformatics/bts479. Epub 2012 Jul 27.
Bioinformatics. 2012.
PMID: 22843986
Free PMC article.
De novo mutation in the dopamine transporter gene associates dopamine dysfunction with autism spectrum disorder.
Hamilton PJ, Campbell NG, Sharma S, Erreger K, Herborg Hansen F, Saunders C, Belovich AN; NIH ARRA Autism Sequencing Consortium; Sahai MA, Cook EH, Gether U, McHaourab HS, Matthies HJ, Sutcliffe JS, Galli A.
Hamilton PJ, et al.
Mol Psychiatry. 2013 Dec;18(12):1315-23. doi: 10.1038/mp.2013.102. Epub 2013 Aug 27.
Mol Psychiatry. 2013.
PMID: 23979605
Free PMC article.
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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.
Ionita-Laza I, Makarov V; ARRA Autism Sequencing Consortium; Buxbaum JD.
Ionita-Laza I, et al.
Am J Hum Genet. 2012 Jun 8;90(6):1002-13. doi: 10.1016/j.ajhg.2012.04.010. Epub 2012 May 10.
Am J Hum Genet. 2012.
PMID: 22578327
Free PMC article.
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