Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …

The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …

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 …

Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines
and develop variant calling and sequencing methods. Here we use accurate linked and …

Background Structural variants (SVs) are critical contributors to genetic diversity and genomic
disease. To predict the phenotypic impact of SVs, there is a need for better estimates of …

Most human genomes are characterized by aligning individual reads to the reference genome,
but accurate long reads and linked reads now enable us to construct accurate, phased …

Background Genomic structural variations (SV) are important determinants of genotypic and
phenotypic changes in many organisms. However, the detection of SV from next-generation …

Over the past 30 years, a community of scientists has pieced together every base pair of the
human reference genome from telomere to telomere. Interestingly, most human genomics …

Here we present Parliament2 – a structural variant caller which combines multiple best-in-class
structural variant callers to create a highly accurate callset. This captures more events …