Hot Paper in Biology

July 2014

“An integrated map of genetic variation from 1,092 human genomes,” by the 1000 Genomes Project, Nature, 491(7422): 56-65, 1 November 2012.  

[Authors' affiliations: 115 institutions worldwide]

Abstract: “By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.”

This 2012 report from Nature was cited 87 times in current journal articles indexed by Thomson Reuters during January-February 2014. Only one other biology paper, aside from reviews, attracted a higher number of citations during that two-month period. Prior to the most recent count, citations to the report have accrued as follows, as tracked by Essential Science Indicators Hot Papers:


November-December 2013: 85 citations
September-October 2013: 81
July-August 2013: 56
May-June 2013: 28
March-April 2013: 21
January-February 2013: 22

Total citations to date: 380



SOURCE: Thomson Reuters Web of Science

The data and citation records included in this report are from Thomson Reuters Web of ScienceTM. Web of ScienceTM is a registered trademark of Thomson Reuters. All rights reserved.