Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative evalua ...

The team used exome sequencing, in which only the protein-coding portion of the genome is analyzed, to look for genetic mutations, and found them in GCK and BCL11B.

DUBLIN--(BUSINESS WIRE)--The "Whole Exome Sequencing Market - A Global and Regional Analysis: Focus on Product, Workflow, Application, End User, and Country - Analysis and Forecast, 2024-2034 ...

“Compared to exome sequencing, genome sequencing provided clarity in an additional 8% of cases: that is significantly more,” explains Professor Rami Abou Jamra, who led the study in Leipzig.

In this process, portions of the human genome that code for protein are sequenced, and this is only about one to two percent of the human genome. However, exome sequencing does not provide an answer ...

Researchers have discovered eight new genes associated with schizophrenia, in the largest exome-sequencing study of the ...

The cancerous components were subsequently microdissected based on morphology. Whole exome sequencing (WES) was conducted on both tumor tissues and paired white cell samples to analyze genomic ...

Tan J, Zhao D, Wang Q, et al. Whole exome sequencing study identifies distinct characteristics of transformed small cell lung cancer with EGFR mutation compared to de novo small cell and primary ...

In this study, researchers led by first author Shamika Ketkar, PhD, performed GWAS using exome sequencing data from 2,559 SSc patient cases and 893 healthy control cases in the Scleroderma Family ...