A decade of next‐generation sequencing in genodermatoses: the impact on gene discovery and clinical diagnostics*
Author:
Affiliation:
1. St John’s Institute of Dermatology School of Basic and Medical Biosciences King’s College London London UK
Publisher
Wiley
Subject
Dermatology
Link
https://onlinelibrary.wiley.com/doi/pdf/10.1111/bjd.19384
Reference90 articles.
1. OMIM.org: leveraging knowledge across phenotype–gene relationships
2. Research Techniques Made Simple: Whole-Transcriptome Sequencing by RNA-Seq for Diagnosis of Monogenic Disorders
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4. Rare-disease genetics in the era of next-generation sequencing: discovery to translation
5. Mendelian Gene Discovery: Fast and Furious with No End in Sight
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