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Literature DB >> 15340426

As normal as normal can be?

Abstract

Two papers report that large-scale copy-number variations, ranging in size from 100 kb to 2 Mb, are distributed widely throughout the human genome, and that a high proportion of them encompass known genes. This unexpected level of genome variation has implications for our view of human genetic diversity and phenotypic variation.

Entities: Species

Mesh：

Year: 2004 PMID： 15340426 DOI： 10.1038/ng0904-931

Source DB: PubMed Journal: Nat Genet ISSN： 1061-4036 Impact factor: 38.330

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Cited

12 in total

1. Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays.

Authors: Michael Wirtenberger; Kari Hemminki; Barbara Burwinkel
Journal: Am J Hum Genet Date: 2006-03 Impact factor: 11.025

Review 2. Structural divergence between the human and chimpanzee genomes.

Authors: Hildegard Kehrer-Sawatzki; David N Cooper
Journal: Hum Genet Date: 2006-10-26 Impact factor: 4.132

3. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Authors: Howard R Slater; Dione K Bailey; Hua Ren; Manqiu Cao; Katrina Bell; Steven Nasioulas; Robert Henke; K H Andy Choo; Giulia C Kennedy
Journal: Am J Hum Genet Date: 2005-09-16 Impact factor: 11.025

Review 4. The interface between genetics and psychology: lessons from developmental dyslexia.

Authors: D V M Bishop
Journal: Proc Biol Sci Date: 2015-05-07 Impact factor: 5.349

5. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

Authors: Violaine Goidts; David N Cooper; Lluis Armengol; Werner Schempp; Jeffrey Conroy; Xavier Estivill; Norma Nowak; Horst Hameister; Hildegard Kehrer-Sawatzki
Journal: Hum Genet Date: 2006-07-13 Impact factor: 4.132

As normal as normal can be?

1. Identification of frequent chromosome copy-number polymorphisms by use of high-resolution single-nucleotide-polymorphism arrays.

Review 2. Structural divergence between the human and chimpanzee genomes.

3. High-resolution identification of chromosomal abnormalities using oligonucleotide arrays containing 116,204 SNPs.

Review 4. The interface between genetics and psychology: lessons from developmental dyslexia.

5. Complex patterns of copy number variation at sites of segmental duplications: an important category of structural variation in the human genome.

6. Increased gene dosage of Ink4a/Arf results in cancer resistance and normal aging.

Review 7. Strategies for the detection of copy number and other structural variants in the human genome.

8. Duplication and positive selection among hominin-specific PRAME genes.

9. FDA perspectives on potential microarray-based clinical diagnostics.

10. Bias of selection on human copy-number variants.