https://pdgfr740y-pactivator.c....om/advancement-as-we
Exome sequencing has introduced a paradigm shift for the recognition of germline variants responsible for Mendelian diseases. Nevertheless, non-coding regions, which make up 98% associated with the genome, can not be grabbed. The possible lack of practical annotation for intronic and intergenic alternatives makes RNA-seq a powerful partner diagnostic. Right here, we illustrate this aspect by identifying six clients with a recessive Osteogenesis Imperfecta (OI) and neonatal progeria pr
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