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Clinical Applications of Next‐Generation Sequencing: The 2013 H uman G enome V ariation S ociety Scientific Meeting
Author(s) -
Ellard Sian,
Patrinos George P.,
Oetting William S.
Publication year - 2013
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.22400
Subject(s) - biology , dna sequencing , genome , computational biology , genomics , personal genomics , human genome , copy number variation , identification (biology) , cancer genome sequencing , genetics , gene , botany
Next‐generation sequencing ( NGS ) has significantly contributed to the transformation of genomic research by providing access to the genome for analysis, by significantly decreasing the sequencing costs and increasing the throughput. The next goal is to exploit this powerful technology in the clinic, namely for diagnostics and therapeutics. The 2013 annual meeting of the Human Genome Variation Society, held in Paris, France, provided a forum to discuss possible clinical applications of NGS , the potential of some of the current NGS systems to transition to the clinic, the identification of causative mutations for rare genetic disorders through whole‐genome or targeted genome resequencing, the application of NGS for family genomics, and NGS data analysis tools.