Literature DB >> 19384970

Genomic variation in a global village: report of the 10th annual Human Genome Variation Meeting 2008.

Anthony J Brookes1, Stephen J Chanock, Thomas J Hudson, Leena Peltonen, Gonçalo Abecasis, Pui-Yan Kwok, Stephen W Scherer.   

Abstract

The Centre for Applied Genomics of the Hospital for Sick Children and the University of Toronto hosted the 10th Human Genome Variation (HGV) Meeting in Toronto, Canada, in October 2008, welcoming about 240 registrants from 34 countries. During the 3 days of plenary workshops, keynote address, and poster sessions, a strong cross-disciplinary trend was evident, integrating expertise from technology and computation, through biology and medicine, to ethics and law. Single nucleotide polymorphisms (SNPs) as well as the larger copy number variants (CNVs) are recognized by ever-improving array and next-generation sequencing technologies, and the data are being incorporated into studies that are increasingly genome-wide as well as global in scope. A greater challenge is to convert data to information, through databases, and to use the information for greater understanding of human variation. In the wake of publications of the first individual genome sequences, an inaugural public forum provided the opportunity to debate whether we are ready for personalized medicine through direct-to-consumer testing. The HGV meetings foster collaboration, and fruits of the interactions from 2008 are anticipated for the 11th annual meeting in September 2009. (c) 2009 Wiley-Liss, Inc.

Entities:  

Mesh:

Year:  2009        PMID: 19384970      PMCID: PMC3873344          DOI: 10.1002/humu.21008

Source DB:  PubMed          Journal:  Hum Mutat        ISSN: 1059-7794            Impact factor:   4.878


  2 in total

1.  Resolving individuals contributing trace amounts of DNA to highly complex mixtures using high-density SNP genotyping microarrays.

Authors:  Nils Homer; Szabolcs Szelinger; Margot Redman; David Duggan; Waibhav Tembe; Jill Muehling; John V Pearson; Dietrich A Stephan; Stanley F Nelson; David W Craig
Journal:  PLoS Genet       Date:  2008-08-29       Impact factor: 5.917

2.  SNPs meet CNVs in genome-wide association studies: HGV2007 meeting report.

Authors:  Xavier Estivill; Nancy J Cox; Stephen J Chanock; Pui-Yan Kwok; Stephen W Scherer; Anthony J Brookes
Journal:  PLoS Genet       Date:  2008-04-25       Impact factor: 5.917

  2 in total

北京卡尤迪生物科技股份有限公司 © 2022-2023.