Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders
Author:
Funder
National Institutes of Health
Publisher
Elsevier BV
Subject
Cell Biology,Dermatology,Molecular Biology,Biochemistry
Reference37 articles.
1. Next-generation sequencing to diagnose suspected genetic disorders;Adams;N Engl J Med,2018
2. Gene ontology: tool for the unification of biology. The Gene Ontology Consortium;Ashburner;Nat Genet,2000
3. Exome sequencing as a tool for Mendelian disease gene discovery;Bamshad;Nat Rev Genet,2011
4. Trimmomatic: a flexible trimmer for Illumina sequence data;Bolger;Bioinformatics,2014
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