Genome-wide association studies have identified thousands of loci for common diseases,
but, for the majority of these, the mechanisms underlying disease susceptibility remain …

Understanding the functional consequences of genetic variation, and how it affects complex
human disease and quantitative traits, remains a critical challenge for biomedicine. We …

Genome sequencing projects are discovering millions of genetic variants in humans, and
interpretation of their functional effects is essential for understanding the genetic basis of …

Transcriptional regulation and posttranscriptional processing underlie many cellular and
organismal phenotypes. We used RNA sequence data generated by Genotype-Tissue …

Here the Human Pangenome Reference Consortium presents a first draft of the human
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …

De novo assembly of a human genome using nanopore long-read sequences has been
reported, but it used more than 150,000 CPU hours and weeks of wall-clock time. To enable …

INTRODUCTION Modern genomics depends on inexpensive short-read sequencing.
Sequenced reads up to a few hundred base pairs in length are computationally mapped to …

Genetic Diagnoses in Critical Care Because a genetic diagnosis can guide clinical management
and improve prognosis in critically ill patients, much effort has gone into developing …

Developmental and epileptic encephalopathy (DEE) is a group of conditions characterized
by the co-occurrence of epilepsy and intellectual disability (ID), typically with developmental …

Cancer stem cells are critical for cancer initiation, development, and treatment resistance.
Our understanding of these processes, and how they relate to glioblastoma heterogeneity, is …