Low-cost whole-genome assembly has enabled the collection of haplotype-resolved
pangenomes for numerous organisms. In turn, this technological change is encouraging the …

Precision medicine promises to transform healthcare for groups and individuals through
early disease detection, refining diagnoses and tailoring treatments. Analysis of large-scale …

Animal studies show aging varies between individuals as well as between organs within an
individual,,–, but whether this is true in humans and its effect on age-related diseases is …

Some individuals with autism spectrum disorder (ASD) carry functional mutations rarely
observed in the general population. We explored the genes disrupted by these variants from …

The germline mutation rate determines the pace of genome evolution and is an evolving
parameter itself. However, little is known about what determines its evolution, as most …

Heart failure encompasses a heterogeneous set of clinical features that converge on
impaired cardiac contractile function, and presents a growing public health concern …

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

Even among genetically identical cancer cells, resistance to therapy frequently emerges
from a small subset of those cells,,,,,–. Molecular differences in rare individual cells in the …

The gut microbiota operates at the interface of host–environment interactions to influence
human homoeostasis and metabolic networks,,–. Environmental factors that unbalance gut …

To capture the full spectrum of genetic risk for autism, we performed a two-stage analysis of
rare de novo and inherited coding variants in 42,607 autism cases, including 35,130 new …