Category Archives: human

Reconstructing prehistoric African population structure

INTRODUCTION The highest genetic diversity in humans is found in Africa, in line with Africa being the cradle of humanity. While the three articles we discussed previously during this tutorial (1,2,3) mainly focused on determining the most parsimonious “out-of-Africa” scenarios … Continue reading

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A journey through the The Simons Genome Diversity Project: more genomes sequenced, more diverse populations

Introduction Since the first genome of Bacteriophage MS21 was completely sequenced, in 1976, until 2001 when the first draft of human genome2 was released, a lot of work was done to improve and to make accessible different methods to get … Continue reading

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Genomic analyses inform on migration events during the peopling of Eurasia

Introduction In the past two decades, considerable research effort has been made to sequence the human genome and subsequently trying to unveil the demographic history underlying the genetic patterns of diversity we observe today across the globe. Here we discuss … Continue reading

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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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