Punctuated bursts in human male demography inferred from 1,244 worldwide Y-chromosome sequences

GD Poznik, Y Xue, FL Mendez, TF Willems, A Massaia… - Nature …, 2016 - nature.com
We report the sequences of 1,244 human Y chromosomes randomly ascertained from 26
worldwide populations by the 1000 Genomes Project. We discovered more than 65,000 …

From evolutionary genetics to human immunology: how selection shapes host defence genes

LB Barreiro, L Quintana-Murci - Nature Reviews Genetics, 2010 - nature.com
Pathogens have always been a major cause of human mortality, so they impose strong
selective pressure on the human genome. Data from population genetic studies, including …

A structural variation reference for medical and population genetics

RL Collins, H Brand, KJ Karczewski, X Zhao, J Alföldi… - Nature, 2020 - nature.com
Structural variants (SVs) rearrange large segments of DNA and can have profound
consequences in evolution and human disease,. As national biobanks, disease-association …

Signatures of mutation and selection in the cancer genome

GR Bignell, CD Greenman, H Davies, AP Butler… - Nature, 2010 - nature.com
The cancer genome is moulded by the dual processes of somatic mutation and selection.
Homozygous deletions in cancer genomes occur over recessive cancer genes, where they …

[HTML][HTML] DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects

O Pös, J Radvanszky, G Buglyó, Z Pös, D Rusnakova… - biomedical …, 2021 - Elsevier
Copy number variants (CNVs) were the subject of extensive research in the past years. They
are common features of the human genome that play an important role in evolution …

Maize inbreds exhibit high levels of copy number variation (CNV) and presence/absence variation (PAV) in genome content

NM Springer, K Ying, Y Fu, T Ji, CT Yeh, Y Jia… - PLoS …, 2009 - journals.plos.org
Following the domestication of maize over the past∼ 10,000 years, breeders have exploited
the extensive genetic diversity of this species to mold its phenotype to meet human needs …

Human adaptation and evolution by segmental duplication

MY Dennis, EE Eichler - Current opinion in genetics & development, 2016 - Elsevier
Duplications are the primary force by which new gene functions arise and provide a
substrate for large-scale structural variation. Analysis of thousands of genomes shows that …

Analysis of copy number variations among diverse cattle breeds

GE Liu, Y Hou, B Zhu, MF Cardone, L Jiang… - Genome …, 2010 - genome.cshlp.org
Genomic structural variation is an important and abundant source of genetic and phenotypic
variation. Here, we describe the first systematic and genome-wide analysis of copy number …

Pervasive gene content variation and copy number variation in maize and its undomesticated progenitor

RA Swanson-Wagner, SR Eichten, S Kumari… - Genome …, 2010 - genome.cshlp.org
Individuals of the same species are generally thought to have very similar genomes.
However, there is growing evidence that structural variation in the form of copy number …

Human-specific transcriptional networks in the brain

G Konopka, T Friedrich, J Davis-Turak, K Winden… - Neuron, 2012 - cell.com
Understanding human-specific patterns of brain gene expression and regulation can
provide key insights into human brain evolution and speciation. Here, we use next …