نتایج جستجو برای: copy number variation

تعداد نتایج: 1448919  

Journal: :Brain research. Cognitive brain research 2005
Marie-Pierre Deiber Vicente Ibañez Roberto Caldara Carine Andrey Claude-Alain Hauert

We investigated cerebral activation during programming of in-phase symmetric finger movements in a precued response task. Partial precues provided advance information about either mirror effectors or in-phase coordination of bimanual movements, while full precue specified both response parameters and neutral precue no movement information. Effects of precueing were assessed on reaction time (RT...

Journal: :Journal of cognitive neuroscience 2004
Pearl Chiu Nalini Ambady Patricia Deldin

Low- and high-prejudiced individuals exhibited differential cortical and behavioral responses to the pending and actual evaluation of emotional in- and out-group faces. Participants viewed warning stimuli indicating the subsequent presentation of an angry or happy African-American or Caucasian face. Upon presentation of the face, participants judged whether they would enjoy working with the ind...

Journal: :Clinical chemistry 2015
Alexander Dobrovic

PCR revolutionized genetic analysis by enabling selective amplification of targeted sequences that, as a consequence of massive enrichment, could undergo genetic analysis by a variety of methodologies. The subsequent addition of a double-stranded DNA intercalating dye to the master mix was a key adaptation to PCR that allowed monitoring of amplification in real time, thus enabling quantificatio...

2010
Bradley Efron Nancy Zhang

Copy number changes, the gains and losses of chromosome segments, are a common type of genetic variation among healthy individuals as well as an important feature in tumor genomes. Microarray technology enables us to simultaneously measure, with moderate accuracy, copy number variation at more than a million chromosome locations and for hundreds of subjects. This leads to massive data sets and ...

2014
Bhoom Suktitipat Chaiwat Naktang Wuttichai Mhuantong Thitima Tularak Paramita Artiwet Ekawat Pasomsap Wallaya Jongjaroenprasert Suthat Fuchareon Surakameth Mahasirimongkol Wasan Chantratita Boonsit Yimwadsana Varodom Charoensawan Natini Jinawath

Copy number variation (CNV) is a major genetic polymorphism contributing to genetic diversity and human evolution. Clinical application of CNVs for diagnostic purposes largely depends on sufficient population CNV data for accurate interpretation. CNVs from general population in currently available databases help classify CNVs of uncertain clinical significance, and benign CNVs. Earlier studies ...

2016
Danielle Song Rudd Thomas H. Wassink Michael G. Anderson Deborah V. Dawson Pedro Gonzalez-Alegre Toshihiro Kitamoto Peggy C. Nopoulos

Schizophrenia (OMIM 181500) is an incurable and severe psychiatric disorder comprised of three symptom domains (positive symptoms, negative symptoms and cognitive impairments) with a worldwide prevalence of approximately 1%. There is a substantial amount of evidence demonstrating that schizophrenia has a strong genetic component. Broad-sense heritability estimates range from 64-80% and first-de...

Journal: :Human molecular genetics 2009
R Stephanie Huang Peixian Chen Steve Wisel Shiwei Duan Wei Zhang Edwin H Cook Soma Das Nancy J Cox M Eileen Dolan

As one of the major glutathione conjugation enzymes, GSTM1 detoxifies a number of drugs and xenobiotics. Its expression and activity have been shown to correlate both with cancer risks and drug resistance. Through a genome-wide association study, we identified a significant association between HapMap SNP rs366631 and GSTM1 expression. In this study, utilizing lymphoblastoid cell lines derived f...

2011
Wanting Chen Caroline Hayward Alan F. Wright Andrew A. Hicks Veronique Vitart Sara Knott Sarah H. Wild Peter P. Pramstaller James F. Wilson Igor Rudan David J. Porteous

Genome analysis provides a powerful approach to test for evidence of genetic variation within and between geographical regions and local populations. Copy number variants which comprise insertions, deletions and duplications of genomic sequence provide one such convenient and informative source. Here, we investigate copy number variants from genome wide scans of single nucleotide polymorphisms ...

2015
Rupam Ruchi Giulio Genovese Jessica Lee Victoria T. Charoonratana Andrea J. Bernhardy Seth L. Alper Jeffrey B. Kopp Ravi Thadhani David J. Friedman Martin R. Pollak

Two coding variants in the APOL1 gene (G1 and G2) explain most of the high rate of kidney disease in African Americans. APOL1-associated kidney disease risk inheritance follows an autosomal recessive pattern: The relative risk of kidney disease associated with inheritance of two high-risk variants is 7-30 fold, depending on the specific kidney phenotype. We wished to determine if the variabilit...

2011
Nathan Pankratz Alexandra Dumitriu Kurt N. Hetrick Mei Sun Jeanne C. Latourelle Jemma B. Wilk Cheryl Halter Kimberly F. Doheny James F. Gusella William C. Nichols Richard H. Myers Tatiana Foroud Anita L. DeStefano

Copy number variants (CNVs) are known to cause Mendelian forms of Parkinson disease (PD), most notably in SNCA and PARK2. PARK2 has a recessive mode of inheritance; however, recent evidence demonstrates that a single CNV in PARK2 (but not a single missense mutation) may increase risk for PD. We recently performed a genome-wide association study for PD that excluded individuals known to have eit...

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