Literature DB >> 15286789

Detection of large-scale variation in the human genome.

A John Iafrate1, Lars Feuk, Miguel N Rivera, Marc L Listewnik, Patricia K Donahoe, Ying Qi, Stephen W Scherer, Charles Lee.   

Abstract

We identified 255 loci across the human genome that contain genomic imbalances among unrelated individuals. Twenty-four variants are present in > 10% of the individuals that we examined. Half of these regions overlap with genes, and many coincide with segmental duplications or gaps in the human genome assembly. This previously unappreciated heterogeneity may underlie certain human phenotypic variation and susceptibility to disease and argues for a more dynamic human genome structure.

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Year:  2004        PMID： 15286789     DOI： 10.1038/ng1416

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


  1161 in total

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2.  Investigation of genetic factors underlying typical orofacial clefts: mutational screening and copy number variation.

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Journal:  J Hum Genet       Date:  2014-11-13       Impact factor: 3.172

3.  The coalescent with selection on copy number variants.

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Journal:  Genetics       Date:  2011-12-14       Impact factor: 4.562

4.  An integrated biochemistry and genetics outreach program designed for elementary school students.

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5.  Contribution of SHANK3 mutations to autism spectrum disorder.

Authors:  Rainald Moessner; Christian R Marshall; James S Sutcliffe; Jennifer Skaug; Dalila Pinto; John Vincent; Lonnie Zwaigenbaum; Bridget Fernandez; Wendy Roberts; Peter Szatmari; Stephen W Scherer
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6.  Reproducible copy number variation patterns among single circulating tumor cells of lung cancer patients.

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Journal:  Proc Natl Acad Sci U S A       Date:  2013-12-09       Impact factor: 11.205

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8.  A pediatric surgeon retools in genetics and genomics to study congenital diaphragmatic hernia.

Authors:  Patricia K Donahoe
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9.  Replication stress induces genome-wide copy number changes in human cells that resemble polymorphic and pathogenic variants.

Authors:  Martin F Arlt; Jennifer G Mulle; Valerie M Schaibley; Ryan L Ragland; Sandra G Durkin; Stephen T Warren; Thomas W Glover
Journal:  Am J Hum Genet       Date:  2009-02-19       Impact factor: 11.025

Review 10.  The emerging molecular architecture of schizophrenia, polygenic risk scores and the clinical implications for GxE research.

Authors:  Conrad Iyegbe; Desmond Campbell; Amy Butler; Olesya Ajnakina; Pak Sham
Journal:  Soc Psychiatry Psychiatr Epidemiol       Date:  2014-01-17       Impact factor: 4.328
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