The Human Genome Project was an enormous accomplishment, providing a foundation for
countless explorations into the genetics and genomics of the human species. Yet for many …

Complete datasets of genetic variants are key to biodiversity genomic studies. Long-read
sequencing technologies allow the routine assembly of highly contiguous, haplotype …

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

Fewer than half of individuals with a suspected Mendelian or monogenic condition receive a
precise molecular diagnosis after comprehensive clinical genetic testing. Improvements in …

The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …

Background Capturing the genetic diversity of wild relatives is crucial for improving crops
because wild species are valuable sources of agronomic traits that are essential to enhance …

Grapevine breeding is hindered by a limited understanding of the genetic basis of complex
agronomic traits. This study constructs a graph-based pangenome reference (Grapepan v …

Background As a single reference genome cannot possibly represent all the variation
present across human individuals, pangenome graphs have been introduced to incorporate …

In the period between 5,300 and 4,900 calibrated years before present (cal. bp), populations
across large parts of Europe underwent a period of demographic decline,. However, the …

The adoption of agriculture triggered a rapid shift towards starch-rich diets in human
populations. Amylase genes facilitate starch digestion, and increased amylase copy number …