Challenges and standards in integrating surveys of structural variation.
There has been an explosion of data describing newly recognized structural variants in the human genome. In the flurry of reporting, there has been no standard approach to collecting the data, assessing its quality or describing identified features. This risks becoming a rampant problem, in particular with respect to surveys of copy number variation and their application to disease studies. Here, we consider the challenges in characterizing and documenting genomic structural variants. From this, we derive recommendations for standards to be adopted, with the aim of ensuring the accurate presentation of this form of genetic variation to facilitate ongoing research.
Scherer
Stephen W
SW
The Centre for Applied Genomics and Program in Genetics and Genomic Biology, The Hospital for Sick Children, 101 College Street, Room 14-701, Ontario M5G 1L7, Canada. steve@genet.sickkids.on.ca
Lee
Charles
C
Birney
Ewan
E
Altshuler
David M
DM
Eichler
Evan E
EE
Carter
Nigel P
NP
Hurles
Matthew E
ME
Feuk
Lars
L
D030541:Databases, Genetic / Q000592:standards; D018628:Gene Dosage; D014644:Genetic Variation; D015894:Genome, Human; D023281:Genomics / Q000592:standards / Q000639:trends; D006801:Humans; D011786:Quality Control; D009626:Terminology as Topic