Dataset Information

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

ABSTRACT: 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.

SUBMITTER: Cocca M

PROVIDER: S-EPMC7080768 | biostudies-literature | 2020 Apr

REPOSITORIES: biostudies-literature

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

Cocca Massimiliano M Barbieri Caterina C Concas Maria Pina MP Robino Antonietta A Brumat Marco M Gandin Ilaria I Trudu Matteo M Sala Cinzia Felicita CF Vuckovic Dragana D Girotto Giorgia G Matullo Giuseppe G Polasek Ozren O Kolčić Ivana I Gasparini Paolo P Soranzo Nicole N Toniolo Daniela D Mezzavilla Massimo M

European journal of human genetics : EJHG 20191129 4

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 trait ...[more]

PMID: 31784700

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Dataset Information

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

Publications

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

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