NIGMS Human Genetic Cell Repository: Chromosomal Aberration Genotyping Panel
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ABSTRACT:
PROVIDER: PRJNA75673 | ENA |
REPOSITORIES: ENA
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Project description:NIGMS Human Genetic Cell Repository: Chromosomal Aberration Genotyping Panel
| PRJNA75675 | ENA
Project description:<p>As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository catalog (<a href="http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8" target="_blank">http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8</a>).</p>
| phs000269.v1.p1 | EGA
Project description:<p>As part of an effort to correlate molecular copy number variation determinations with state of the art karyotype analyses, 716 samples derived from 697 individuals from the Chromosomal Aberrations and Inherited Disorders collections of the NIGMS Human Genetic Cell Repository were genotyped and analyzed for CNV determination by the Microarray Center at the Coriell Institute for Medical Research. Karyotyping is performed on all cell cultures in the Repository with reported chromosome abnormalities. The samples chosen for genotyping in this study are intended to represent a diverse set of copy number variants, but the selection was also weighted to over-sample commonly manifested types of aberrations. When available, the ISCN description of the sample based on G-banding and FISH analysis is included in the phenotypic data. Karyotypes for these cells can be viewed in the online Repository catalog (<a href="http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8" target="_blank">http://ccr.coriell.org/Sections/Collections/NIGMS/?SsId=8</a>).</p>
| phs000269 | dbGaP
Project description:NIGMS Human Genetic Cell Repository: Ethnic Panels
| PRJNA75409 | ENA
Project description:NIGMS Human Genetic Cell Repository: CEPH Family Panels
| PRJNA75669 | ENA
Project description:In order to identify putative targets in squamous cell carcinoma (SCC), a survey of parallel chromosomal alterations and gene expression studies in 10 SCC cell lines were performed using array-CGH and microarray techniques. The most frequent changes were gains of 11q13.1-13.3 and losses of 18q12.1-23 in SCC. Furthermore, the expression levels of the sets of genes at both these loci in SCC were measured using microarray analysis. By combining the array-CGH with the microarray data, 10 genes at 11q13.1-13.3 and 6 genes at 18q12.1-23 whose expression correlated with chromosomal alterations were identified. Keywords: comparative genomic hybridization
2008-12-01 | GSE11938 | GEO
Project description:NIGMS Human Genetic Cell Repository: Ethnic Panels
| PRJNA75411 | ENA
Project description:Exposure to asbestos is a risk for malignant mesothelioma in humans. We carried out array comparative genomic hybridization (CGH) analysis in a rat model by repeated intraperitoneal injections of three types of asbestos including chrysotile, crocidolite and amosite. We found a common chromosomal deletion mapped to the chromosome 5q32 locus, containing the genes encoding tumour suppressor genes CDKN2A/2B/ARF. Homozygous deletion of CDKN2A/2B/ARF was observed in the majority (92.6%) of the rat MM samples.
2012-08-14 | GSE36577 | GEO
Project description:NIGMS Human Genetic Cell Repository: CEPH Family Panels
| PRJNA75671 | ENA
Project description:Exposure to asbestos is a risk for malignant mesothelioma in humans. We carried out array comparative genomic hybridization (CGH) analysis in a rat model by repeated intraperitoneal injections of three types of asbestos including chrysotile, crocidolite and amosite. We found a common chromosomal deletion mapped to the chromosome 5q32 locus, containing the genes encoding tumour suppressor genes CDKN2A/2B/ARF. Homozygous deletion of CDKN2A/2B/ARF was observed in the majority (92.6%) of the rat MM samples. Carcinogenesis protocol was performed using specific pathogen-free male and female F1 hybrid rats between Fischer344 and Brown-Norway strains. A total of 27 tumor samples were profiled on Agilent 244A aCGH arrays according to manufacturer's instructions for the screening purpose.
2012-08-13 | E-GEOD-36577 | biostudies-arrayexpress