[HTML][HTML] Nanopore sequencing technology, bioinformatics and applications
Rapid advances in nanopore technologies for sequencing single long DNA and RNA
molecules have led to substantial improvements in accuracy, read length and throughput …
molecules have led to substantial improvements in accuracy, read length and throughput …
Artificial intelligence in molecular medicine
Artificial Intelligence in Molecular Medicine | New England Journal of Medicine Skip to main
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content The New England Journal of Medicine homepage Advanced Search SEARCH …
The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished …
The complete sequence of a human Y chromosome
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 …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
A guide for the diagnosis of rare and undiagnosed disease: beyond the exome
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 …
worldwide, often causing chronic illness, disability, and premature death. Traditional …
A complete reference genome improves analysis of human genetic variation
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 …
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
Ultrarapid nanopore genome sequencing in a critical care setting
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 …
management and improve prognosis in critically ill patients, much effort has gone into …
Towards population-scale long-read sequencing
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …
allows their application to variant detection at a scale of tens to thousands of samples …
DeepConsensus improves the accuracy of sequences with a gap-aware sequence transformer
Circular consensus sequencing with Pacific Biosciences (PacBio) technology generates
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
long (10–25 kilobases), accurate 'HiFi'reads by combining serial observations of a DNA …
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
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 …
prevented its complete assembly to date and led to its systematic omission from genomic …