Mutations, the fuel of evolution, are first manifested as rare DNA changes within a population
of cells. Although next-generation sequencing (NGS) technologies have revolutionized the …

Diagnostic technologies for the detection of plant pathogens with point-of-care capability
and high multiplexing ability are an essential tool in the fight to reduce the large agricultural …

Most genes associated with neurodevelopmental disorders (NDDs) were identified with an
excess of de novo mutations (DNMs) but the significance in case–control mutation burden …

Whole exome sequencing has proven to be a powerful tool for understanding the genetic
architecture of human disease. Here we apply it to more than 2,500 simplex families, each …

Human accelerated regions (HARs) are the fastest-evolving regions of the human genome,
and many are hypothesized to function as regulatory elements that drive human-specific …

Recurrent de novo (DN) and likely gene-disruptive (LGD) mutations contribute significantly
to autism spectrum disorders (ASDs) but have been primarily investigated in European …

The efficiency of targeted knock-in for cell therapeutic applications is generally low, and the
scale is limited. In this study, we developed CLASH, a system that enables high-efficiency …

The genetic cause underlying the development of multiple colonic adenomas, the
premalignant precursors of colorectal cancer (CRC), frequently remains unresolved in …

Clonal hematopoiesis results from somatic mutations in hematopoietic stem cells, which give
an advantage to mutant cells, driving their clonal expansion and potentially leading to …

Autism spectrum disorder (ASD) has a strong but complex genetic component. Here we
report on the resequencing of 64 candidate neurodevelopmental disorder risk genes in …