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 …

The 1000 Genomes Project (1kGP) is the largest fully open resource of whole-genome
sequencing (WGS) data consented for public distribution without access or use restrictions. The …

INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …

A key goal of whole-genome sequencing for studies of human genetics is to interrogate all
forms of variation, including single-nucleotide variants, small insertion or deletion (indel) …

Few studies have explored the impact of rare variants (minor allele frequency < 1%) on highly
heritable plasma metabolites identified in metabolomic screens. The Finnish population …

Next-generation sequencing (NGS) has emerged as a powerful technique for the detection
of genetic variants in the clinical laboratory. NGS can be performed using DNA from FFPE …

Next generation sequencing (NGS), or massively paralleled sequencing, refers to a collective
group of methods in which numerous sequencing reactions take place simultaneously, …

Currently, oncology testing includes molecular studies and cytogenetic analysis to detect
genetic aberrations of clinical significance. Next-generation sequencing (NGS) allows rapid …

Exome-sequencing studies have generally been underpowered to identify deleterious
alleles with a large effect on complex traits as such alleles are mostly rare. Because the …

The NHGRI Genomic Data Science Analysis, Visualization, and Informatics Lab-space (AnVIL;
https://anvilproject.org) was developed to address a widespread community need for a …