[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 …
Towards population-scale long-read sequencing
W De Coster, MH Weissensteiner… - Nature Reviews …, 2021 - nature.com
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 …
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 …
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 …
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 …
Artificial intelligence in plant breeding
Harnessing cutting-edge technologies to enhance crop productivity is a pivotal goal in
modern plant breeding. Artificial intelligence (AI) is renowned for its prowess in big data …
modern plant breeding. Artificial intelligence (AI) is renowned for its prowess in big data …
Curated variation benchmarks for challenging medically relevant autosomal genes
J Wagner, ND Olson, L Harris, J McDaniel… - Nature …, 2022 - nature.com
The repetitive nature and complexity of some medically relevant genes poses a challenge
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …
for their accurate analysis in a clinical setting. The Genome in a Bottle Consortium has …
Highly contiguous assemblies of 101 drosophilid genomes
Over 100 years of studies in Drosophila melanogaster and related species in the genus
Drosophila have facilitated key discoveries in genetics, genomics, and evolution. While high …
Drosophila have facilitated key discoveries in genetics, genomics, and evolution. While high …
Chasing perfection: validation and polishing strategies for telomere-to-telomere genome assemblies
Advances in long-read sequencing technologies and genome assembly methods have
enabled the recent completion of the first telomere-to-telomere human genome assembly …
enabled the recent completion of the first telomere-to-telomere human genome assembly …
Application and challenge of 3rd generation sequencing for clinical bacterial studies
Over the past 25 years, the powerful combination of genome sequencing and bioinformatics
analysis has played a crucial role in interpreting information encoded in bacterial genomes …
analysis has played a crucial role in interpreting information encoded in bacterial genomes …