Discovery of variants unmasked by hemizygous deletions
Discovery of variants unmasked by hemizygous deletions
About this item
Full title
Author / Creator
Publisher
Basingstoke: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
Basingstoke: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Array-based genome-wide segmental aneuploidy screening detects both de novo and inherited copy number variations (CNVs). In sporadic patients de novo CNVs are interpreted as potentially pathogenic. However, a deletion, transmitted from a healthy parent, may be pathogenic if it overlaps with a mutated second allele inherited from the other healthy p...
Alternative Titles
Full title
Discovery of variants unmasked by hemizygous deletions
Authors, Artists and Contributors
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3376260
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_3376260
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/ejhg.2011.263
