Exome sequencing as a tool for Mendelian disease
Improving genetic diagnosis in Mendelian disease
with transcriptome sequencing.
And some symptoms linked to a Mendelian disease
may also be signs of other diseases.
Researchers examined the health records of over 21,000 patients and were able to group them based on the likelihood that they shared the same Mendelian disease
. They then looked at the DNA of the patient groups to see if they also shared a genetic mutation.
Unlocking Mendelian disease
using exome sequencing.
Avramopoulos et al., "Whole-genome sequencing of a single proband together with linkage analysis identifies a Mendelian disease
gene," PLoS Genetics, vol.
Of these, Personalis augments the coverage of over 8,000 medically associated genes, beginning with 4,600 genes identified by the International Collaboration for Clinical Genomics as being related to Mendelian Disease
. Then the company proceeds by adding genes that have been more recently associated with Mendelian conditions, as well as genes determined likely to have as-yet undiscovered Mendelian associations.
In contrast to Mendelian disease
, complex traits are comprehensive consequence of a number of factors both genetic and environmental.
From a genetics perspective, the clinical area that we as a diagnostics community understand most deeply is that of Mendelian disease
For linkage mapping of Mendelian disease
in humans using DNA polymorphisms.
Although WES isn't perfect for finding new disease-gene associations--it identifies new mendelian disease
genes in approximately 60% of cases (Eur.