Literature DB >> 23268128

Translating genes into health.

Larry J Kricka1, Chiara Di Resta.   

Abstract

A major challenge for genomics is to provide clinical benefits to the genetically diverse human population. Genome science has achieved a catalog of mutations and informative SNPs. Next-generation sequencing is rapidly delivering thousands of complete human genomes, but understanding and applying genomic knowledge remains a daunting undertaking. These challenges and opportunities for genomic medicine were central themes of the Golden Helix Symposium held in Turin, Italy, 18-21 April 2012.

Entities:  

Mesh：

Year:  2013        PMID： 23268128     DOI： 10.1038/ng.2510

Source DB:  PubMed          Journal:  Nat Genet        ISSN： 1061-4036            Impact factor:   38.330


  4 in total

1.  Genetic testing in neurology exploiting next generation sequencing: state of art.

Authors:  Chiara Di Resta; Maurizio Ferrari
Journal:  Neural Regen Res       Date:  2020-02       Impact factor: 5.135

Review 2.  From genes to health - challenges and opportunities.

Authors:  Muhammad Ramzan Manwar Hussain; Asifullah Khan; Hussein Sheikh Ali Mohamoud
Journal:  Front Pediatr       Date:  2014-03-03       Impact factor: 3.418

3.  Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene.

Authors:  Patrick R Sosnay; Karen R Siklosi; Fredrick Van Goor; Kyle Kaniecki; Haihui Yu; Neeraj Sharma; Anabela S Ramalho; Margarida D Amaral; Ruslan Dorfman; Julian Zielenski; David L Masica; Rachel Karchin; Linda Millen; Philip J Thomas; George P Patrinos; Mary Corey; Michelle H Lewis; Johanna M Rommens; Carlo Castellani; Christopher M Penland; Garry R Cutting
Journal:  Nat Genet       Date:  2013-08-25       Impact factor: 38.330

4.  Integration of multigene panels for the diagnosis of hereditary retinal disorders using Next Generation Sequencing and bioinformatics approaches.

Authors:  Chiara Di Resta; Ivana Spiga; Silvia Presi; Stefania Merella; Giovanni Battista Pipitone; Maria Pia Manitto; Giuseppe Querques; Maurizio Battaglia Parodi; Maurizio Ferrari; Paola Carrera
Journal:  EJIFCC       Date:  2018-04-30
  4 in total

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