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Article

Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders.

The Journal of investigative dermatology - 1 Jun 2020

Saeidian Amir Hossein, Youssefian Leila, Vahidnezhad Hassan, Uitto Jouni

Abstract excerpt

Mendelian disorders with cutaneous manifestations comprise a genotypically heterogeneous group of over 1,000 diseases, and in most of them mutant genes have been identified. Mutation detection approaches in these diseases have largely focused on DNA analysis by next-generation sequencing techniques, including gene-targeted sequencing panels as well as whole-exome and whole-genome sequencing. Genome-wide...

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Identifiers

PMID: 32446329
DOI: 10.1016/j.jid.2020.02.032
PMCID: PMC8722382

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-08.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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