نتایج جستجو برای: copy number variation
تعداد نتایج: 1448919 فیلتر نتایج به سال:
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...
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...
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...
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 ...
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 ...
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...
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...
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 ...
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...
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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