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Imprinting: the Achilles heel of trio-based exome sequencing.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2016 Nov; Vol. 18 (11), pp. 1163-1164. Date of Electronic Publication: 2016 Sep 15. - Publication Year :
- 2016
- Subjects :
- Angelman Syndrome genetics
Diagnostic Errors
False Negative Reactions
Family
Female
Genetic Testing methods
Genetic Testing standards
Humans
Infant, Newborn
Intellectual Disability diagnosis
Molecular Diagnostic Techniques standards
Prader-Willi Syndrome genetics
Pregnancy
Prenatal Diagnosis methods
Sequence Analysis, DNA standards
Exome
Genomic Imprinting physiology
Intellectual Disability genetics
Molecular Diagnostic Techniques methods
Proteins genetics
Sequence Analysis, DNA methods
Subjects
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 18
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Publication Type :
- Report
- Accession number :
- 27632685
- Full Text :
- https://doi.org/10.1038/gim.2016.128