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Article
Open AccessUnderstanding the genomic heterogeneity of North African Imazighen: from broad to microgeographical perspectives
The strategic location of North Africa has led to cultural and demographic shifts, sha** its genetic structure. Historical migrations brought different genetic components that are evident in present-day Nort...
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Article
Open AccessPopulation history modulates the fitness effects of Copy Number Variation in the Roma
We provide the first whole genome Copy Number Variant (CNV) study addressing Roma, along with reference populations from South Asia, the Middle East and Europe. Using CNV calling software for short-read sequen...
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Article
Open AccessWhole mitogenomes reveal that NW Africa has acted both as a source and a destination for multiple human movements
Despite being enclosed between the Mediterranean Sea and the Sahara Desert, North Africa has been the scenario of multiple human migrations that have shaped the genetic structure of its present-day populations...
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Article
Open AccessY-chromosome target enrichment reveals rapid expansion of haplogroup R1b-DF27 in Iberia during the Bronze Age transition
The Y chromosome can yield a unique perspective into the study of human demographic history. However, due to the repetitive nature of part of its sequence, only a small set of regions are suitable for variant ...
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Article
Open AccessFounder lineages in the Iberian Roma mitogenomes recapitulate the Roma diaspora and show the effects of demographic bottlenecks
The Roma are the largest ethnic minority in Europe. With a Northwestern Indian origin around ~ 1.5 kya, they travelled throughout West Asia until their arrival in Europe around the eleventh century CE. Their d...
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Article
Characterization of 58 STRs and 94 SNPs with the ForenSeq™ DNA signature prep kit in Mexican-Mestizos from the Monterrey city (Northeast, Mexico)
STR allele frequency databases from populations are necessary to take full advantage of the increased power of discrimination offered by massively parallel sequencing (MPS) platforms.
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Human Evolution: The Genomic Evidence
Since Darwin, we understand the process that generates biological diversity, including human diversity, as a genealogical tree that relates all individuals and all species. Within this framework of analysis, a...
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Article
Open AccessWhole-exome analysis in Tunisian Imazighen and Arabs shows the impact of demography in functional variation
Human populations are genetically affected by their demographic history, which shapes the distribution of their functional genomic variation. However, the genetic impact of recent demography is debated. This i...
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Chapter
The Y Chromosome
Most of the length of the Y chromosome escapes recombination with the X chromosome and is strictly paternally inherited. This has profound evolutionary implications and provides (together with the matrilineal ...
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Chapter
Africa
The higher genetic diversity present in African human groups is the result of our African origin and the subsequent bottleneck that took place during the colonization of the rest of the continents. However, th...
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Article
The place of metropolitan France in the European genomic landscape
Unlike other European countries, the human population genetics and demographic history of Metropolitan France is surprisingly understudied. In this work, we combined newly genotyped samples from various zones ...
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The Parallel Lives of Human Y Chromosome Lineages Across the Strait of Gibraltar
The patrilineal transmission of the Y chromosome and the fact that diversity in it accumulates along a strict genealogy imply that, by observing the current Y chromosome diversity in men, inferences can be mad...
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Article
Open AccessAncient DNA of Phoenician remains indicates discontinuity in the settlement history of Ibiza
Ibiza was permanently settled around the 7th century BCE by founders arriving from west Phoenicia. The founding population grew significantly and reached its height during the 4th century BCE. We obtained nine co...
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Article
Open AccessWhole Y-chromosome sequences reveal an extremely recent origin of the most common North African paternal lineage E-M183 (M81)
E-M183 (E-M81) is the most frequent paternal lineage in North Africa and thus it must be considered to explore past historical and demographical processes. Here, by using whole Y chromosome sequences from 32 N...
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Article
Open AccessAnalysis of the R1b-DF27 haplogroup shows that a large fraction of Iberian Y-chromosome lineages originated recently in situ
Haplogroup R1b-M269 comprises most Western European Y chromosomes; of its main branches, R1b-DF27 is by far the least known, and it appears to be highly prevalent only in Iberia. We have genotyped 1072 R1b-DF2...
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Article
The Y chromosome as the most popular marker in genetic genealogy benefits interdisciplinary research
The Y chromosome is currently by far the most popular marker in genetic genealogy that combines genetic data and family history. This popularity is based on its haploid character and its close association with...
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Article
Y-chromosomal sequences of diverse Indian populations and the ancestry of the Andamanese
We present 42 new Y-chromosomal sequences from diverse Indian tribal and non-tribal populations, including the Jarawa and Onge from the Andaman Islands, which are analysed within a calibrated Y-chromosomal phy...
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Article
Open AccessConsistency of metagenomic assignment programs in simulated and real data
Metagenomics is the genomic study of uncultured environmental samples, which has been greatly facilitated by the advent of shotgun-sequencing technologies. One of the main focuses of metagenomics is the discov...
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Article
Recombination networks as genetic markers in a human variation study of the Old World
We have analyzed human genetic diversity in 33 Old World populations including 23 populations obtained through Genographic Project studies. A set of 1,536 SNPs in five X chromosome regions were genotyped in 1,...
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Article
Open AccessGenetic adaptation of the antibacterial human innate immunity network
Pathogens have represented an important selective force during the adaptation of modern human populations to changing social and other environmental conditions. The evolution of the immune system has therefore...
