1000 Genomes Project reveals global insights into human genetic variation

A global reference for human genetic variation 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. Here we report completion of the project, having reconstructed the genomes of 2,504 individuals from 26 populations using a…

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UStar Genetic Discovery News

An integrated map of structural variation in 2,504 human genomes Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising both balanced and unbalanced variants, which we constructed using short-read DNA sequencing data and statistically…

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Mario Capecchi Recognized With AACR Lifetime Achievement in Cancer Research Award

PHILADELPHIA — Mario R. Capecchi, PhD, will be honored for his tremendous scientific contributions, which have had a profound impact on the understanding of cancer, including his groundbreaking work in the development of gene targeting technology, with the 12th annual American Association for Cancer Research (AACR) Award for Lifetime Achievement in Cancer Research at the…

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