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Santorini mutation detection meeting 2011: Rapid advance in sequencing technology poses challenges for interpretation of genetic variations
Author(s) -
Stavrou Eleana F.,
Goriely Anne
Publication year - 2012
Publication title -
human mutation
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.981
H-Index - 162
eISSN - 1098-1004
pISSN - 1059-7794
DOI - 10.1002/humu.22135
Subject(s) - biology , exome sequencing , whole genome sequencing , exome , computational biology , dna sequencing , genetics , interpretation (philosophy) , genome , genomic sequencing , mutation , sequence (biology) , gene , computer science , programming language
Abstract The 11th International Symposium on Mutations in the Genome was held on 6–10 June, 2011, in Santorini, Greece. Meeting participants described novel detection technologies, rapid advances in whole genome and whole‐exome sequencing, but also highlighted the urgent need for the development of sequence variation databases and the clinical interpretation of the genomic data. This report summarizes some of the major themes presented during the meeting. Hum Mutat 33:1497–1500, 2012. © 2012 Wiley Periodicals, Inc.