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Thread: A bird’s-eye view of Italian genomic variation through whole-genome sequencing

  1. #1
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    3 members found this post helpful.

    A bird’s-eye view of Italian genomic variation through whole-genome sequencing

    The genomic variation of the Italian peninsula populations is currently under characterised: the only Italian whole-genome reference is represented by the Tuscans from the 1000 Genome Project. To address this issue, we sequenced a total of 947 Italian samples from three different geographical areas. First, we defined a new Italian Genome Reference Panel (IGRP1.0) for imputation, which improved imputation accuracy, especially for rare variants, and we tested it by GWAS analysis on red blood traits. Furthermore, we extended the catalogue of genetic variation investigating the level of population structure, the pattern of natural selection, the distribution of deleterious variants and occurrence of human knockouts (HKOs). Overall the results demonstrate a high level of genomic differentiation between cohorts, different signatures of natural selection and a distinctive distribution of deleterious variants and HKOs, confirming the necessity of distinct genome references for the Italian population.

    https://www.nature.com/articles/s41431-019-0551-x
    Delving into it now.

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    1 members found this post helpful.
    Quote Originally Posted by Jovialis View Post
    Delving into it now.

    They are using old samples from previous studies.


    Val Borbera (VBI), Carlantino (CAR), Erto (ERT), Illegio (ILG), Resia (RSI), Sauris (SAU), San Martino del Carso (SMC), and Clauzetto (CLZ).

    Last edited by Pax Augusta; 04-12-19 at 06:06.

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    1 members found this post helpful.
    According to them, those samples from the Friuli area are the most drifted and unique. They're even separate from one another.

    It may be important in terms of finding rare variants, but they shouldn't be used for population genetics purposes as relates to Italian genetics.

    The Val Borbera samples are almost all those from the mountain Ligure villages, aren't they?

    They don't seem to have been that isolated genetically.


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    I will await

    “Disentangling fine-scale population movements and interactions in the Italian Veneto Area: an archaeogenetic diachronic study of the inhabitants of Lamon”


    Summary: This project will study the dynamics of a population from the Italian eastern Alps over 2,000 years by combining traditional archaeological methods with cutting edge techniques in archaeological science. Ancient DNA will be obtained from skeletal human remains from two archaeological necropolises of Roman, Medieval and post-Medieval age from the village of Lamon, Veneto, and compared to the DNA of the current inhabitants of the same area. This project, developed in collaboration with the Archaeological Museum of Lamon, is expected to enrich the knowledge of the cultural heritage of the region while allowing a direct involvement of the local population in the project.
    Fathers mtdna T2b17
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    Grandmum paternal side I1d1-P109
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    Quote Originally Posted by torzio View Post
    I will await

    “Disentangling fine-scale population movements and interactions in the Italian Veneto Area: an archaeogenetic diachronic study of the inhabitants of Lamon”


    Summary: This project will study the dynamics of a population from the Italian eastern Alps over 2,000 years by combining traditional archaeological methods with cutting edge techniques in archaeological science. Ancient DNA will be obtained from skeletal human remains from two archaeological necropolises of Roman, Medieval and post-Medieval age from the village of Lamon, Veneto, and compared to the DNA of the current inhabitants of the same area. This project, developed in collaboration with the Archaeological Museum of Lamon, is expected to enrich the knowledge of the cultural heritage of the region while allowing a direct involvement of the local population in the project.
    Thanks. Do you have a link?

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    Quote Originally Posted by Regio X View Post
    Thanks. Do you have a link?
    not yet

    here is another with a link which will be benefit to you

    https://www.tandfonline.com/doi/full...eedAccess=true

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