Towards a comprehensive structural variation map of an individual human genome for personalized medicine
Ontology highlight
ABSTRACT:
ORGANISM(S): Homo sapiens
SUBMITTER: Andy Pang
PROVIDER: E-GEOD-20290 | biostudies-arrayexpress |
REPOSITORIES: biostudies-arrayexpress
Publications
Towards a comprehensive structural variation map of an individual human genome.
Pang Andy W AW MacDonald Jeffrey R JR Pinto Dalila D Wei John J Rafiq Muhammad A MA Conrad Donald F DF Park Hansoo H Hurles Matthew E ME Lee Charles C Venter J Craig JC Kirkness Ewen F EF Levy Samuel S Feuk Lars L Scherer Stephen W SW
Genome biology 20100519 5
<h4>Background</h4>Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in mapping single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/deletions (indels), the annotation of larger structural variants has been less comprehensive. It is still unclear to what extent a typical genome differs from the reference assembly, and the analysis of the genomes sequenced to date have shown varying results for copy number ...[more]
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