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Rare diseases affect 30 million people in the USA and more than 300–400 million
worldwide, often causing chronic illness, disability, and premature death. Traditional …

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 …

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 …

Genetic Diagnoses in Critical Care Because a genetic diagnosis can guide clinical
management and improve prognosis in critically ill patients, much effort has gone into …

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

The prevalence of highly repetitive sequences within the human Y chromosome has
prevented its complete assembly to date and led to its systematic omission from genomic …

Long-read sequencing technologies substantially overcome the limitations of short-reads
but have not been considered as a feasible replacement for population-scale projects, being …

Deep learning-based variant callers are becoming the standard and have achieved superior
single nucleotide polymorphisms calling performance using long reads. Here we present …