An integrated map of genetic variation from 1,092 human genomes
- Gil A. David M. Richard M. Gonçalo R. David R. Aravind McVean Altshuler (Co-Chair) Durbin (Co-Chair) Abec, Gil A. McVean, G. Marth
- 16 October 2012
It is shown 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.
An integrated map of structural variation in 2,504 human genomes
- P. Sudmant, T. Rausch, J. Korbel
- 30 September 2015
An integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which are constructed using short-read DNA sequencing data and statistically phased onto haplotype blocks in 26 human populations are described.
The complete genome sequence of a Neandertal from the Altai Mountains
- Kay Prüfer, Fernando Racimo, S. Pääbo
- 18 December 2013
It is shown that interbreeding, albeit of low magnitude, occurred among many hominin groups in the Late Pleistocene and a definitive list of substitutions that became fixed in modern humans after their separation from the ancestors of Neanderthals and Denisovans is established.
A High-Coverage Genome Sequence from an Archaic Denisovan Individual
- M. Meyer, Martin Kircher, S. Pääbo
- 12 October 2012
The genomic sequence provides evidence for very low rates of heterozygosity in the Denisova, probably not because of recent inbreeding, but instead because of a small population size, and illuminates the relationships between humans and archaics, including Neandertals, and establishes a catalog of genetic changes within the human lineage.
Ancient human genomes suggest three ancestral populations for present-day Europeans
- Iosif Lazaridis, N. Patterson, J. Krause
- History, BiologyNature
- 23 December 2013
It is shown that most present-day Europeans derive from at least three highly differentiated populations: west European hunter-gatherers, who contributed ancestry to all Europeans but not to Near Easterners; ancient north Eurasians related to Upper Palaeolithic Siberians; and early European farmers, who were mainly of Near Eastern origin but also harboured west Europeanhunter-gatherer related ancestry.
Great ape genetic diversity and population history
- Javier Prado-Martinez, P. Sudmant, T. Marquès-Bonet
- 1 June 2013
This comprehensive catalogue of great ape genome diversity provides a framework for understanding evolution and a resource for more effective management of wild and captive great ape populations.
Copy number variation detection and genotyping from exome sequence data
- Niklas Krumm, P. Sudmant, E. Eichler
- BiologyGenome Research
- 14 May 2012
A novel method using singular value decomposition (SVD) normalization to discover rare genic copy number variants (CNVs) as well as genotype copy number polymorphic (CNP) loci with high sensitivity and specificity from exome sequencing data is developed.
Diversity of Human Copy Number Variation and Multicopy Genes
- P. Sudmant, J. Kitzman, E. Eichler
- 29 October 2010
This work identified 4.1 million “singly unique nucleotide” positions informative in distinguishing specific copies and used them to genotype the copy and content of specific paralogs within highly duplicated gene families, revealing extensive population genetic diversity, and detect signatures consistent with gene conversion in the human species.
Evolution of Human-Specific Neural SRGAP2 Genes by Incomplete Segmental Duplication
- M. Dennis, X. Nuttle, E. Eichler
- 11 May 2012
Resolving the complexity of the human genome using single-molecule sequencing
- Mark J. P. Chaisson, John Huddleston, E. Eichler
- 10 November 2014
A greater complexity of the human genome in the form of variation of longer and more complex repetitive DNA that can now be largely resolved with the application of this longer-read sequencing technology is suggested.