Category Archives: human

ExAC presents a catalogue of human protein-coding genetic variation

Exploration of variability of human genomes represents a key step in the holy grail of human genetics – to link genotypes with phenotypes, it also provides insights to human evolution and history. For this purpose Exome Aggregation Consortium (ExAC) have … Continue reading

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Identification of a large set of rare complete human knockouts

High throughput genotyping and sequencing has led to the discovery of numerous sequence variants associated to human traits and diseases. An important type of variants involved are Loss of Function (LoF) mutations (frameshift indels, stop-gain and essential sites variants), which … Continue reading

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Reconstructing human population history : ancestry and admixture

Understanding the evolutionary history of our own species, how migration and mixture of ancestral populations have shaped modern human populations is a key question in evolutionary biology. Here we present three articles related to this topic, the first two dealing … Continue reading

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The African Genome Variation Project shapes medical genetics in Africa.

Despite being the world’s most genetically diverse continent, only a handful of studies attempted to understand the genetic risks for diseases of the African populations. This study shines light not only on the genetic diversity to help learn more … Continue reading

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Gibbon genome and the fast karyotype evolution of small apes

All contents refer to the original paper (Carbone et al. Nature. 2014 Sep 11;513(7517):195-201) Summary and personal comments This paper concerns a study of gibbon karyotype in the perspective of their divergent evolution from ancestral primates. Gibbons, small monkeys living in South-East … Continue reading

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The genetics of Mexico recapitulates Native American substructure and affects biomedical traits

Mexico, hosted many cultures such as the Olmec, the Toltec, the Maya and the Aztec, conquered and colonized by the Spanish Empire in 1521. The country harbors a large source of pre-Columbian diversity and their genetic contributions to today’s population. … Continue reading

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Gibbon genome and the fast karyotype evolution of small apes

Gibbons are small apes living in southeast Asia that diverged between Old Monkeys and great apes and whose most distinctive feature is the high rate of evolutionary chromosomal rearrangement. The aim of this study was threefold: First, the authors looked … Continue reading

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Great ape genetic diversity and population history

Humans and chimpanzees share about 95% of their DNA. Having this in mind the recently published paper of Prado-Martinez et al. 2013, focusing at identifying great-ape genetic variation and resolving great-ape population history (based on historical-effective population sizes) reflects a … Continue reading

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Evolutionary History and Adaptation from High-Coverage Whole-Genome Sequences of Diverse African Hunter-Gatherers

“ Hunting and gathering was humanity’s first and most successful adaptation, occupying at least 90 percent of human history. Until 12,000 years ago, all humans lived this way. ” [The Cambridge Encyclopedia of Hunters and Gatherers. Richard B. Lee and … Continue reading

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Hard selective sweeps do not seem to be the rule in human evolution.

by Ricardo Kanitz, based on the paper by Hernandez et al. published in Science (2011). One of the main topics in evolution is – as it has always been – human evolution. Many new methods are applied first to humans; … Continue reading

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