Sequencing the coding regions, the exome, of the human genome is one of the major current strategies to identify low frequency and rare variants associated with human disease traits. So far, the ...

Variants were identified with the use of Atlas-SNP and Atlas-Indel. 16 ESP denotes ESP5400 data from the National Heart, Lung, and Blood Institute GO Exome Sequencing Project, HGMD Human Gene ...

Previous evaluations of the diagnostic yield of genome sequencing as compared with exome sequencing have shown either a similar 14 or only mildly increased yield, 12 with few causal variants ...

At Baylor, Dr. Olivier Lichtarge's lab used its evolutionary action-machine learning (EAML) framework to analyze the exome sequencing data and prioritize genes with high-impact variants predictive ...

BGI Tech, a subsidiary of BGI, the world's largest genomics organization, announced today the global launch of a new human whole exome sequencing service based on Complete Genomics' industry ...

Researchers from University of Miami Miller School of Medicine and Roche Applied Science have recently published a research study on human exome resequencing results from eight individuals that span ...

The findings are published in the American Journal of Human Genetics. Functional experiments such as RNA sequencing, which reads the transcriptome or the gene expression in a cell, are often needed to ...

At Baylor, the laboratory of Olivier Lichtarge, MD, PhD, used its evolutionary action-machine learning (EAML) framework to analyze the exome sequencing data and prioritize genes with high-impact ...