The false-negative rate of cancer exome sequencing is low i . e ., the majority of neoantigens occur within exonic sequence with sufficient coverage.
32.
In order to provide pharmacogenomic recommendations for a given drug, two possible types of input can be used : genotyping or exome or whole genome sequencing.
33.
SAMS was previously thought to be an autosomal-recessive disorder but studies with molecular karyotyping and whole-exome sequencing ( WES ) has shown otherwise.
34.
Proteins are encoded in genomic DNA by exons, and these comprise only < " 1 % of the human genomic sequence ( aka the exome ).
35.
He helped develop the American College of Medical Genetics and Genomics ( ACMG ) s controversial recommendations for reporting incidental findings in clinical exome and genome sequencing.
36.
Mendelian forms of myopia has been identified in four consanguineous families and are the likely causal mutations implementing exome / autozygome investigated to recognize homozygous truncating variants in LRPAP1.
37.
The complete modular protein-coding capacity of the genome is contained within the exome, and consists of DNA sequences encoded by exons that can be translated into proteins.
38.
CNV studies were closely followed by exome sequencing studies, which sequence the 1-2 % of the genome that codes for proteins ( the " exome " ).
39.
CNV studies were closely followed by exome sequencing studies, which sequence the 1-2 % of the genome that codes for proteins ( the " exome " ).
40.
Advances in genetic testing, such as exome sequencing and specific gene panels, can provide greater access to diagnoses for muscle ?-enolase deficiency and other rare disorders.
