Journal: Children

Article Title: Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine

doi: 10.3390/children12040429

Figure Lengend Snippet: Earliest studies for clinical exome and genome sequencing.

Article Snippet: Vissers et al. [ ], November 2010, Nature Genetics , Radboud University Nijmegen Medical Centre, The Netherlands, trio WES on 10 individuals with moderate to severe intellectual disability with a negative family history, and unexplained cause , Whole exome , Identified de novo mutations in 9 genes, 6 of which in 6 individuals were considered to be likely pathogenic , Family-based WES identified the de novo nature of mutations in individuals with intellectual disability.

Techniques: Sequencing, Biomarker Discovery, Mutagenesis, Variant Assay, Control, Diagnostic Assay

Journal: Children

Article Title: Rapid Whole-Genome Sequencing in Critically Ill Infants and Children with Suspected, Undiagnosed Genetic Diseases: Evolution to a First-Tier Clinical Laboratory Test in the Era of Precision Medicine

doi: 10.3390/children12040429

Figure Lengend Snippet: Key cohort studies for clinical exome and whole-genome sequencing in children, 2013–2017.

Article Snippet: Vissers et al. [ ], November 2010, Nature Genetics , Radboud University Nijmegen Medical Centre, The Netherlands, trio WES on 10 individuals with moderate to severe intellectual disability with a negative family history, and unexplained cause , Whole exome , Identified de novo mutations in 9 genes, 6 of which in 6 individuals were considered to be likely pathogenic , Family-based WES identified the de novo nature of mutations in individuals with intellectual disability.

Techniques: Sequencing, Genomic Sequencing, DNA Sequencing, Diagnostic Assay, Biomarker Discovery, Mutagenesis, Control