TY - JOUR
T1 - Linking chromosome abnormality and copy number variation
AU - Cody, Jannine D.
AU - Hale, Daniel E.
PY - 2011/3
Y1 - 2011/3
N2 - Nine out of 10 people has a chromosome copy number variation (CNV) of >1,000bp of DNA. In some cases they are inconsequential, in other cases the variations cause disease or disability, and in most cases the relevance has not been elucidated. Several studies describe CNVs as "normal" biological variants while other studies suggest that CNVs may be associated with developmental disability. A concerted effort is needed to classify genes according to their dosage sensitivity, or to their lack of sensitivity. Over time, this effort will lead to the establishment of principles that permit the prediction of the consequence of any one genomic copy number change.
AB - Nine out of 10 people has a chromosome copy number variation (CNV) of >1,000bp of DNA. In some cases they are inconsequential, in other cases the variations cause disease or disability, and in most cases the relevance has not been elucidated. Several studies describe CNVs as "normal" biological variants while other studies suggest that CNVs may be associated with developmental disability. A concerted effort is needed to classify genes according to their dosage sensitivity, or to their lack of sensitivity. Over time, this effort will lead to the establishment of principles that permit the prediction of the consequence of any one genomic copy number change.
UR - http://www.scopus.com/inward/record.url?scp=79951974996&partnerID=8YFLogxK
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U2 - 10.1002/ajmg.a.33849
DO - 10.1002/ajmg.a.33849
M3 - Article
C2 - 21344636
AN - SCOPUS:79951974996
SN - 1552-4825
VL - 155
SP - 469
EP - 475
JO - American Journal of Medical Genetics, Part A
JF - American Journal of Medical Genetics, Part A
IS - 3
ER -