A reference cell tree will serve science better than a reference cell atlas
Single-cell biology is facing a crisis of sorts. Vast numbers of single-cell molecular profiles
are being generated, clustered and annotated. However, this is overwhelmingly ad hoc, and …
are being generated, clustered and annotated. However, this is overwhelmingly ad hoc, and …
Transposable elements in mammalian chromatin organization
Transposable elements (TEs) are mobile DNA elements that comprise almost 50% of
mammalian genomic sequence. TEs are capable of making additional copies of themselves …
mammalian genomic sequence. TEs are capable of making additional copies of themselves …
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 …
Detection of mosaic and population-level structural variants with Sniffles2
Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
Method of the year: long-read sequencing
V Marx - Nature Methods, 2023 - nature.com
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Telomere-to-telomere assembly of diploid chromosomes with Verkko
Abstract The Telomere-to-Telomere consortium recently assembled the first truly complete
sequence of a human genome. To resolve the most complex repeats, this project relied on …
sequence of a human genome. To resolve the most complex repeats, this project relied on …
Pangenome-based genome inference allows efficient and accurate genoty** across a wide spectrum of variant classes
Typical genoty** workflows map reads to a reference genome before identifying genetic
variants. Generating such alignments introduces reference biases and comes with …
variants. Generating such alignments introduces reference biases and comes with …
Semi-automated assembly of high-quality diploid human reference genomes
The current human reference genome, GRCh38, represents over 20 years of effort to
generate a high-quality assembly, which has benefitted society,. However, it still has many …
generate a high-quality assembly, which has benefitted society,. However, it still has many …
NextDenovo: an efficient error correction and accurate assembly tool for noisy long reads
Long-read sequencing data, particularly those derived from the Oxford Nanopore
sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an …
sequencing platform, tend to exhibit high error rates. Here, we present NextDenovo, an …