Nature1y
A new whole-exome sequencing platform makes the case for broader precision cancer care
One middle-aged woman with breast cancer, for example, had no actionable DNA alterations, as gauged by a standard gene panel test. But a mutation found by full exome sequencing revealed that she ...
Hosted on MSN29d
High-throughput sequencing genetic testing identifies 25% more rare disease risks
The breakthrough came with the Whole Exome Sequencing (WES), a cutting-edge genetic test provided by BGI Genomics. By analyzing the children's DNA, scientists discovered a mutation in the CHKB ...
Phgfoundation4d
Optimising EXome PREnatal Sequencing Services
Exome sequencing, which examines the 1-2% of the genome that encodes proteins, is a powerful approach where many genes can be examined with a single test, and can improve diagnostic rates.
Gradalis Announces Development of Clinically Relevant Exome Sequencing Bioinformatics Pipeline to Determine Clonal Tumor Mutation Burden
Optimal therapeutic targeting of cancer involves clonal signals which are expressed within all cancer cellsGradalis applies a novel clinically ...
technologynetworks29d
Long-Read Sequencing Detects Rare Disease Variants
As a result, diagnosis often involves genetic testing consisting of clinical short-read exome and genome sequencing ... not all – standard-of-care test modalities. Our study, however, also highlights ...