Clinical Utility of Transcriptome Sequencing: Toward a Better Diagnosis for Mendelian Disorders
Author:
Affiliation:
1. Department of Human Genetics, Emory University School of Medicine, Atlanta, GA
Funder
Muscular Dystrophy Association
Publisher
Oxford University Press (OUP)
Subject
Biochemistry (medical),Clinical Biochemistry
Link
http://academic.oup.com/clinchem/article-pdf/64/6/882/32642521/clinchem0882.pdf
Reference6 articles.
1. Improving genetic diagnosis in Mendelian disease with transcriptome sequencing;Cummings;Sci Transl Med,2017
2. Gene and variant annotation for Mendelian disorders in the era of advanced sequencing technologies;Chakravorty;Annu Rev Genomics Hum Genet,2017
3. Transcriptome and genome sequencing uncovers functional variation in humans;Lappalainen;Nature,2013
4. Detect tissue heterogeneity in gene expression data with BioQC;Zhang;BMC Genomics,2017
5. Wharton's jelly-derived cells are a primitive stromal cell population;Troyer;Stem Cells,2008
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2. Transcriptome analysis provides critical answers to the “variants of uncertain significance” conundrum;Human Mutation;2022-05-18
3. Analysis of transcript-deleterious variants in Mendelian disorders: implications for RNA-based diagnostics;Genome Biology;2020-06-17
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