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Pregled bibliografske jedinice broj: 1251199

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

Cocca, Massimiliano; Barbieri, Caterina; Concas, Maria Pina; Robino, Antonietta; Brumat, Marco; Gandin, Ilaria; Trudu, Matteo; Sala, Cinzia Felicita; Vuckovic, Dragana; Girotto, Giorgia et al.
A bird’s-eye view of Italian genomic variation through whole-genome sequencing // European Journal of Human Genetics, 28 (2019), 4; 435-444 doi:10.1038/s41431-019-0551-x (međunarodna recenzija, članak, znanstveni)

CROSBI ID: 1251199 Za ispravke kontaktirajte CROSBI podršku putem web obrasca

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

Autori
Cocca, Massimiliano ; Barbieri, Caterina ; Concas, Maria Pina ; Robino, Antonietta ; Brumat, Marco ; Gandin, Ilaria ; Trudu, Matteo ; Sala, Cinzia Felicita ; Vuckovic, Dragana ; Girotto, Giorgia ; Matullo, Giuseppe ; Polasek, Ozren ; Kolčić, Ivana ; Gasparini, Paolo ; Soranzo, Nicole ; Toniolo, Daniela ; Mezzavilla, Massimo

Izvornik
European Journal of Human Genetics (1018-4813) 28 (2019), 4; 435-444

Vrsta, podvrsta i kategorija rada
Radovi u časopisima, članak, znanstveni

Ključne riječi
WIDE ASSOCIATION ; GENOTYPE IMPUTATION ; LOW-FREQUENCY ; POPULATION ; VARIANTS ; RARE ; METAANALYSIS

Sažetak
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.

Izvorni jezik
Engleski

Znanstvena područja
Temeljne medicinske znanosti



POVEZANOST RADA

Ustanove:
Medicinski fakultet, Split

Profili:

Avatar Url Ivana Kolčić (autor)

Avatar Url Ozren Polašek (autor)

Poveznice na cjeloviti tekst rada:

doi

Citiraj ovu publikaciju:

Cocca, Massimiliano; Barbieri, Caterina; Concas, Maria Pina; Robino, Antonietta; Brumat, Marco; Gandin, Ilaria; Trudu, Matteo; Sala, Cinzia Felicita; Vuckovic, Dragana; Girotto, Giorgia et al.
A bird’s-eye view of Italian genomic variation through whole-genome sequencing // European Journal of Human Genetics, 28 (2019), 4; 435-444 doi:10.1038/s41431-019-0551-x (međunarodna recenzija, članak, znanstveni)
Cocca, M., Barbieri, C., Concas, M., Robino, A., Brumat, M., Gandin, I., Trudu, M., Sala, C., Vuckovic, D. & Girotto, G. (2019) A bird’s-eye view of Italian genomic variation through whole-genome sequencing. European Journal of Human Genetics, 28 (4), 435-444 doi:10.1038/s41431-019-0551-x.
@article{article, author = {Cocca, Massimiliano and Barbieri, Caterina and Concas, Maria Pina and Robino, Antonietta and Brumat, Marco and Gandin, Ilaria and Trudu, Matteo and Sala, Cinzia Felicita and Vuckovic, Dragana and Girotto, Giorgia and Matullo, Giuseppe and Polasek, Ozren and Kol\v{c}i\'{c}, Ivana and Gasparini, Paolo and Soranzo, Nicole and Toniolo, Daniela and Mezzavilla, Massimo}, year = {2019}, pages = {435-444}, DOI = {10.1038/s41431-019-0551-x}, keywords = {WIDE ASSOCIATION, GENOTYPE IMPUTATION, LOW-FREQUENCY, POPULATION, VARIANTS, RARE, METAANALYSIS}, journal = {European Journal of Human Genetics}, doi = {10.1038/s41431-019-0551-x}, volume = {28}, number = {4}, issn = {1018-4813}, title = {A bird’s-eye view of Italian genomic variation through whole-genome sequencing}, keyword = {WIDE ASSOCIATION, GENOTYPE IMPUTATION, LOW-FREQUENCY, POPULATION, VARIANTS, RARE, METAANALYSIS} }
@article{article, author = {Cocca, Massimiliano and Barbieri, Caterina and Concas, Maria Pina and Robino, Antonietta and Brumat, Marco and Gandin, Ilaria and Trudu, Matteo and Sala, Cinzia Felicita and Vuckovic, Dragana and Girotto, Giorgia and Matullo, Giuseppe and Polasek, Ozren and Kol\v{c}i\'{c}, Ivana and Gasparini, Paolo and Soranzo, Nicole and Toniolo, Daniela and Mezzavilla, Massimo}, year = {2019}, pages = {435-444}, DOI = {10.1038/s41431-019-0551-x}, keywords = {WIDE ASSOCIATION, GENOTYPE IMPUTATION, LOW-FREQUENCY, POPULATION, VARIANTS, RARE, METAANALYSIS}, journal = {European Journal of Human Genetics}, doi = {10.1038/s41431-019-0551-x}, volume = {28}, number = {4}, issn = {1018-4813}, title = {A bird’s-eye view of Italian genomic variation through whole-genome sequencing}, keyword = {WIDE ASSOCIATION, GENOTYPE IMPUTATION, LOW-FREQUENCY, POPULATION, VARIANTS, RARE, METAANALYSIS} }

Časopis indeksira:


  • Current Contents Connect (CCC)
  • Web of Science Core Collection (WoSCC)
    • Science Citation Index Expanded (SCI-EXP)
    • SCI-EXP, SSCI i/ili A&HCI
  • Scopus
  • MEDLINE

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