Cancer ranks as one of the deadliest diseases worldwide. The high mortality rate associated
with cancer is partially due to the lack of reliable early detection methods and/or inaccurate …

Widespread clinical laboratory implementation of next-generation sequencing–based
cancer testing has highlighted the importance and potential benefits of standardizing the …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders,,–, but …

Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is an omics data
consolidator, graphical viewer, and general bioinformatics resource that continues to serve …

Gene expression profiling has identified numerous processes altered in aging, but how
these changes arise is largely unknown. Here we combined nascent RNA sequencing and …

The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

Typical genoty** workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

For more than two decades, the UCSC Genome Browser database (https://genome. ucsc.
edu) has provided high-quality genomics data visualization and genome annotations to the …

Regulation of biological processes typically incorporates mechanisms that initiate and
terminate the process and, where understood, these mechanisms often involve feedback …