Background Early cancer detection could identify tumors at a time when outcomes are
superior and treatment is less morbid. This prospective case-control sub-study (from …

In the Circulating Cell-free Genome Atlas (NCT02889978) substudy 1, we evaluate several
approaches for a circulating cell-free DNA (cfDNA)-based multi-cancer early detection (…

… b, Venn diagrams showing the total number of mutations detected in cfDNA and tumor
and their overlap. Top: distribution of mutations in the ten hypermutated cases (MBC, n = 5; …

PRDM9 directs human meiotic crossover hot spots to intergenic sequence motifs, whereas
budding yeast hot spots overlap regions of low nucleosome density (LND) in gene promoters. …

To study the evolution of recombination rates in apes, we developed methodology to
construct a fine-scale genetic map from high-throughput sequence data from 10 Western …

Instances in which natural selection maintains genetic variation in a population over millions
of years are thought to be extremely rare. We conducted a genome-wide scan for long-lived …

The DNA-binding protein PRDM9 has a critical role in specifying meiotic recombination
hotspots in mice and apes, but it appears to be absent from other vertebrate species, including …

Current imaging-based cancer screening approaches provide useful but limited prognostic
information. Complementary to existing screening tests, cell-free DNA–based multicancer …

Germline mutation determines rates of molecular evolution, genetic diversity, and fitness
load. In humans, the average point mutation rate is 1.2 × 10 −8 per base pair per generation, …

DNA methylation is a fundamental epigenetic mark that governs gene expression and
chromatin organization, thus providing a window into cellular identity and developmental …