Tumor mutational burden (TMB) is a new biomarker for prediction of response to PD-(L) 1
treatment. Comprehensive sequencing approaches (ie, whole exome and whole genome …

The completion of a reference genome sequence for humans took more than 200 scientists
more than a decade in a project that cost almost $3 billion to complete (International Human …

Thanks to the development of high‐throughput sequencing technologies, target enrichment
sequencing of nuclear ultraconserved DNA elements (UCEs) now allows routine inference …

Inherited retinal disease is a common cause of visual impairment and represents a highly
heterogeneous group of conditions. Here, we present findings from a cohort of 722 …

Epilepsy is a frequent feature of neurodevelopmental disorders (NDDs), but little is known
about genetic differences between NDDs with and without epilepsy. We analyzed de novo …

Next‐generation sequencing has aided characterization of genomic variation. While whole‐
genome sequencing may capture all possible mutations, whole‐exome sequencing remains …

Hybridization is a key molecular process in biology and biotechnology, but so far there is no
predictive model for accurately determining hybridization rate constants based on sequence …

Tumor progression is typically accompanied by an accumulation of driver and passenger
somatic mutations. A handful of those mutations occur in protein coding genes which …

Nucleic acid sequence variations have been implicated in many diseases, and reliable
detection and quantitation of DNA/RNA biomarkers can inform effective therapeutic action …

High-frequency mutations in tumor genomes could be exploited as an asset for developing
tumor vaccines. In recent years, with the tremendous breakthrough in genomics, intelligence …