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

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 homozygosity mapping (HM), based on DNA polymorphism, has also assisted in the identification of candidate genes in families with consanguinity.

Source: Journal of Investigative Dermatology - May 20, 2020 Category: Dermatology Authors: Amir Hossein Saeidian, Leila Youssefian, Hassan Vahidnezhad, Jouni Uitto Tags: Research Techniques Made Simple Source Type: research