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Vincenza Colonna

Researcher at National Research Council

Publications -  63
Citations -  18312

Vincenza Colonna is an academic researcher from National Research Council. The author has contributed to research in topics: Population & Biology. The author has an hindex of 23, co-authored 53 publications receiving 12790 citations. Previous affiliations of Vincenza Colonna include Wellcome Trust Sanger Institute & University of Ferrara.

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A global reference for human genetic variation.

Adam Auton, +517 more
- 01 Oct 2015 - 
TL;DR: The 1000 Genomes Project set out to provide a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and has reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole-generation sequencing, deep exome sequencing, and dense microarray genotyping.

A global reference for human genetic variation

Adam Auton, +479 more
TL;DR: The 1000 Genomes Project as mentioned in this paper provided a comprehensive description of common human genetic variation by applying whole-genome sequencing to a diverse set of individuals from multiple populations, and reported the completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a combination of low-coverage whole genome sequencing, deep exome sequencing and dense microarray genotyping.
Journal ArticleDOI

Integrative Annotation of Variants from 1092 Humans: Application to Cancer Genomics

TL;DR: In this article, the authors used patterns of polymorphisms in functionally annotated regions in 1092 humans to identify deleterious variants; then, they experimentally validated candidates, finding regions particularly sensitive to mutations and variants that are disruptive because of mechanistic effects on transcription-factor binding.
Journal ArticleDOI

Human genome diversity: frequently asked questions

TL;DR: The rapidly growing body of data on the authors' genomic diversity has already cast new light on human population history and is now revealing intricate biological relationships among individuals and populations of their species.