Integrated analysis of metabolomic profiling and exome data supplements sequence variant interpretation, classification, and diagnosis
- 22 May 2020
- journal article
- research article
- Published by Elsevier BV in Genetics in Medicine
- Vol. 22 (9), 1560-1566
- https://doi.org/10.1038/s41436-020-0827-0
Abstract
No abstract availableFunding Information
- NIH (5T32GM007526)
This publication has 20 references indexed in Scilit:
- A metabolomic map of Zellweger spectrum disorders reveals novel disease biomarkersGenetics in Medicine, 2018
- Clinical application of whole-exome sequencing across clinical indicationsGenetics in Medicine, 2016
- Performance of ACMG-AMP Variant-Interpretation Guidelines among Nine Laboratories in the Clinical Sequencing Exploratory Research ConsortiumAmerican Journal of Human Genetics, 2016
- Enhanced utility of family-centered diagnostic exome sequencing with inheritance model–based analysis: results from 500 unselected families with undiagnosed genetic conditionsGenetics in Medicine, 2015
- ClinGen — The Clinical Genome ResourceThe New England Journal of Medicine, 2015
- Untargeted metabolomic analysis for the clinical screening of inborn errors of metabolismJournal of Inherited Metabolic Disease, 2015
- Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular PathologyGenetics in Medicine, 2015
- Clinical Exome Sequencing for Genetic Identification of Rare Mendelian DisordersJAMA, 2014
- Molecular Findings Among Patients Referred for Clinical Whole-Exome SequencingJAMA, 2014
- Clinical Whole-Exome Sequencing for the Diagnosis of Mendelian DisordersThe New England Journal of Medicine, 2013