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Week of December 4, 2011

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"A map of human genome variation from population-scale sequencing," by the 1000 Genomes Project Consortium (D.L. Altshuler, et al.), Nature, 467(7319): 1061-73, 28 October 2010.

[Authors' affiliations: 78 institutions worldwide]

Abstract: "The 1000 Genomes Project aims to provide a deep characterization of human genome sequence variation as a foundation for investigating the relationship between genotype and phenotype. Here we present results of the pilot phase of the project, designed to develop and compare different strategies for genome-wide sequencing with high-throughput platforms. We undertook three projects: low-coverage whole-genome sequencing of 179 individuals from four populations; high-coverage sequencing of two mother-father-child trios; and exon-targeted sequencing of 697 individuals from seven populations. We describe the location, allele frequency and local haplotype structure of approximately 15 million single nucleotide polymorphisms, 1 million short insertions and deletions, and 20,000 structural variants, most of which were previously undescribed. We show that, because we have catalogued the vast majority of common variation, over 95% of the currently accessible variants found in any individual are present in this data set. On average, each person is found to carry approximately 250 to 300 loss-of-function variants in annotated genes and 50 to 100 variants previously implicated in inherited disorders. We demonstrate how these results can be used to inform association and functional studies. From the two trios, we directly estimate the rate of de novo germline base substitution mutations to be approximately 10-8 per base pair per generation. We explore the data with regard to signatures of natural selection, and identify a marked reduction of genetic variation in the neighbourhood of genes, due to selection at linked sites. These methods and public data will support the next phase of human genetic research."

This 2010 report from Nature was cited 94 times in current journal articles indexed by Clarivate Analytics during July-August 2011. With its latest two-month tally, the report now registers as the most-cited biology paper published in the last two years (excluding reviews), having ascended from its #2 spot in the previous count for May-June. Prior to the latest bimonthly period, citations to the paper have accrued as follows:

May-June 2011: 59 citations
March-April 2011: 48
January-February 2011: 13
November-December 2010: 5

Total citations to date: 219

SOURCE: Hot Papers Database (Included with a subscription to Science Watch®, available from the Research Services Group of Thomson Reuters. The Hot Papers Database contains data on hundreds of highly cited papers published during the last two years. User interface permits searching by author, organization, journal, field, and more. Total citations, as well as citations accrued during successive bimonthly periods, can be assessed and graphed. New Hot Papers updates are produced every two months.


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