Next-generation sequencing technologies have enabled a dramatic expansion of clinical
genetic testing both for inherited conditions and diseases such as cancer. Accurate variant …

Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Detailed knowledge of how diversity in the sequence of the human genome affects
phenotypic diversity depends on a comprehensive and reliable characterization of both …

Summary 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 …

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

Typical genotyping workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …

Haplotype-resolved de novo assembly is the ultimate solution to the study of sequence
variations in a genome. However, existing algorithms either collapse heterozygous alleles …

Long-read sequencing has the potential to transform variant detection by reaching currently
difficult-to-map regions and routinely linking together adjacent variations to enable read …

Nanopore sequencers can be used to selectively sequence certain DNA molecules in a pool
by reversing the voltage across individual nanopores to reject specific sequences, enabling …

Complete and accurate genome assemblies form the basis of most downstream genomic
analyses and are of critical importance. Recent genome assembly projects have relied on a …