article Open AccessTop 1% cited
Clinical application of exome sequencing in undiagnosed genetic conditions
Journal of Medical Genetics · 2012 · Vol. 49(6) · pp. 353–361
Anna C. Need(Duke University)Vandana Shashi(Duke University)Yuki Hitomi(Duke University)Kelly Schoch(Duke University)Kevin V. Shianna(Duke University)Marie McDonald(Duke University)Miriam H. Meisler(University of Michigan–Ann Arbor)David B. Goldstein✉(Center for Human Genetics)
Abstract
This study provides evidence that next-generation sequencing can have high success rates in a clinical setting, but also highlights key challenges. It further suggests that the presentation of known Mendelian conditions may be considerably broader than currently recognised.
Genomics and Rare DiseasesGenetics and Neurodevelopmental DisordersCellular transport and secretionProbandExome sequencingMendelian inheritanceGeneticsExomeDiseaseBiologyDNA sequencingBioinformaticsGenetic heterogeneity
MeSH terms
Transcription Factor 4AdolescentAdultChildChild, PreschoolFemaleHumansInfantMaleModels, GeneticMutationTranscription FactorsSequence Analysis, DNAMolecular Diagnostic TechniquesGenetic Diseases, Inborn
Funding
- National Institutes of Health
- National Institute on Aging
- National Institute of Mental Health
- National Institute of Allergy and Infectious Diseases
- NHLBI Division of Intramural Research
Citations
433
FWCI
36.39
field-weighted impact
References
60
Percentile
100%
vs. same field & year
Citations per year
References
A method and server for predicting damaging missense mutations
Nature Methods · 2010 · 13,461 citations
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