… T2T-CHM13 includes gapless telomere-to-telomere assemblies for all 22 human
autosomes and chromosome X, comprising 3,054,815,472 bp of nuclear DNA, plus a 16,569-bp …

Long-read single-molecule sequencing has revolutionized de novo genome assembly and
enabled the automated reconstruction of reference-quality genomes. However, given the …

… 263,923 heterozygous indels spanning 635,314 bp, with size ranges from 1 to 321 bp.
The characteristics of the indels we detected, their distribution of sizes <5 bp, and the inverse …

… -quality genome assemblies of human 1 and other model species (for example, Caenorhabditis
elegans 2 , mouse 3 , and zebrafish 4 ) were put together using 500–1,000-base pair (bp…

Recent long-read assemblies often exceed the quality and completeness of available
reference genomes, making validation challenging. Here we present Merqury, a novel tool for …

The rhesus macaque (Macaca mulatta) is an abundant primate species that diverged from
the ancestors of Homo sapiens about 25 million years ago. Because they are genetically and …

… 150 bp) and ∼700 bp for 454 (max. 1,000 bp). Short reads make assembly and related …
read lengths from 1,000 bp to 100 bp can lead to a sixfold or more decrease in continuity 6 . …

… It also disregards overlaps that do not satisfy a quality threshold (by default, at most 1.5%
alignment error and at least 40 bp spanned). It loads at most one directed edge per node, …

Long-read sequencing and novel long-range assays have revolutionized de novo genome
assembly by automating the reconstruction of reference-quality genomes. In particular, Hi-C …

… We define a unit as a single sequence of 2–6 bp that is repeated in the sequence. For … repeat
with a unit size of up to 6 bp gets its own character. Microsatellites are detected in the reads …