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Your search keyword '"Carter, Nigel P."' showing total 5 results
Start Over Author "Carter, Nigel P." Publisher cold spring harbor laboratory press
5 results on '"Carter, Nigel P."'

1. Copy number variation and evolution in humans and chimpanzees

Author

Perry, George H., Fengtang Yang, Marques-Bonet, Tomas, Murphy, Carly, Fitzgerald, Tomas, Lee, Arthur S., Hyland, Courtney, Stone, Anne C., Hurles, Matthew E., Tuler-Smith, Chris, Eichler, Evan E., Carter, Nigel P., Lee, Charles, and Redon, Richard

Subjects
Chimpanzees -- Genetic aspects, Human genome -- Analysis, Polymerase chain reaction -- Usage, Population genetics -- Analysis, Health
Published
2008

2. An integrated resource for genome-wide identification and analysis of human tissue-specific differentially methylated regions (tDMRs)

Author

Rakyan, Vardhman K., Down, Thomas A., Thorne, Natalie P., Flicek, Paul, Kulesha, Eugene, Graf, Stefan, Tomazou, Eleni M., Backdahl, Liselotte, Johnson, Nathan, Herberth, Marlis, Howe, Kevin L., Jackson, David K., Miretti, Marcos M., Fiegler, Heike, Marioni, John C., Birney, Ewan, Hubbard. Tim J.P., Carter, Nigel P., Tavare, Simon, and Beck, Stephan

Subjects
Methylation -- Analysis, Genomics -- Research, DNA -- Chemical properties, Health
Abstract

The article discusses a novel integrated resource, which is used for the genome-wide identification and analysis of the human tissue-specific differentially methylated regions (tDMRs). These tDMRs are shown to play an extremely significant role in the cellular identity and regulation of tissue-specific genome function.

Published
2008

3. The landscape of histone modifications across 1% of the human genome in five human cell lines

Author

Koch, Christoph M., Clelland, Gayle K., James, Keith D., Dhami, Pawandeep, Vetrie, David, Andrews, Robert M., Lefebvre, Gregory C., Langford, Cordelia F., Dunham, Ian, Wilcox, Sarah, Flicek, Paul, Beare, David, Bruce, Alexander W., Zhiping Weng, Dillon, Shane C., Fowler, Joanna C., Dovey, oliver M., Birney, Ewan, Karaoz, Ulas, Couttet, Phillippe, Ellis, Peter D., and Carter, Nigel P.

Subjects
Histones -- Analysis, Cell lines -- Analysis, Genetic transcription -- Analysis, Health
Abstract

The study of modified maps of histone in five human cell lines reveals the differences in transcription of the different cell lines.

Published
2007

4. Copy number variation: New insights in genome diversity

Author

Freeman, Jennifer L., Perry, George H., Feuk, Lars, Redon, Richard, McCarroll, Steven A., Altshuler, David M., Hiroyuki Aburatani, Jones, Keith W., Tyler-Smith, Chris, Hurles, Matthew E., Carter, Nigel P., Scherer, Stephen W., and Lee, Charles

Subjects
Genetic variation -- Research, Gene mutations -- Research, Genetic disorders -- Research, Health
Abstract

Copy number variants (CNVs) account for a substantial amount of genetic variation in humans, and since many CNVs include genes that result in differential levels of gene expression, CNVs may account for a significant proportion of normal phenotypic variation. Efforts are directed toward a more comprehensive cataloging and characterization of CNVs that will provide the basis for determining how genomic diversity impacts biological function, evolution and common human diseases.

Published
2006

5. Accurate and reliable high-throughput detection of copy number variation in the human genome.

Author

Fiegler H, Redon R, Andrews D, Scott C, Andrews R, Carder C, Clark R, Dovey O, Ellis P, Feuk L, French L, Hunt P, Kalaitzopoulos D, Larkin J, Montgomery L, Perry GH, Plumb BW, Porter K, Rigby RE, Rigler D, Valsesia A, Langford C, Humphray SJ, Scherer SW, Lee C, Hurles ME, and Carter NP

Subjects
Algorithms, Chromosome Mapping, DNA genetics, DNA Fingerprinting, Euchromatin chemistry, False Negative Reactions, False Positive Reactions, Gene Expression Profiling, Humans, Nucleic Acid Hybridization, Oligonucleotide Array Sequence Analysis, Reproducibility of Results, Gene Dosage, Genetic Variation, Genome, Human
Abstract

This study describes a new tool for accurate and reliable high-throughput detection of copy number variation in the human genome. We have constructed a large-insert clone DNA microarray covering the entire human genome in tiling path resolution that we have used to identify copy number variation in human populations. Crucial to this study has been the development of a robust array platform and analytic process for the automated identification of copy number variants (CNVs). The array consists of 26,574 clones covering 93.7% of euchromatic regions. Clones were selected primarily from the published "Golden Path," and mapping was confirmed by fingerprinting and BAC-end sequencing. Array performance was extensively tested by a series of validation assays. These included determining the hybridization characteristics of each individual clone on the array by chromosome-specific add-in experiments. Estimation of data reproducibility and false-positive/negative rates was carried out using self-self hybridizations, replicate experiments, and independent validations of CNVs. Based on these studies, we developed a variance-based automatic copy number detection analysis process (CNVfinder) and have demonstrated its robustness by comparison with the SW-ARRAY method.

Published
2006
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