Premium
Diagnostic interpretation of array data using public databases and internet sources
Author(s) -
de Leeuw Nicole,
Dijkhuizen Trijnie,
HehirKwa Jayne Y.,
Carter Nigel P.,
Feuk Lars,
Firth Helen V.,
Kuhn Robert M.,
Ledbetter David H.,
Martin Christa Lese,
van RavenswaaijArts Conny M. A.,
Scherer Steven W.,
Shams Soheil,
Van Vooren Steven,
Sijmons Rolf,
Swertz Morris,
Hastings Ros
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.22049
Subject(s) - the internet , biology , interpretation (philosophy) , copy number variation , computer science , data science , database , data mining , information retrieval , genome , world wide web , genetics , gene , programming language
The range of commercially available array platforms and analysis software packages is expanding and their utility is improving, making reliable detection of copy‐number variants (CNVs) relatively straightforward. Reliable interpretation of CNV data, however, is often difficult and requires expertise. With our knowledge of the human genome growing rapidly, applications for array testing continuously broadening, and the resolution of CNV detection increasing, this leads to great complexity in interpreting what can be daunting data. Correct CNV interpretation and optimal use of the genotype information provided by single‐nucleotide polymorphism probes on an array depends largely on knowledge present in various resources. In addition to the availability of host laboratories' own datasets and national registries, there are several public databases and Internet resources with genotype and phenotype information that can be used for array data interpretation. With so many resources now available, it is important to know which are fit‐for‐purpose in a diagnostic setting. We summarize the characteristics of the most commonly used Internet databases and resources, and propose a general data interpretation strategy that can be used for comparative hybridization, comparative intensity, and genotype‐based array data. Hum Mutat 33:930–940, 2012. © 2012 Wiley Periodicals, Inc.