The status of the human gene catalogue
Scientists have been trying to identify every gene in the human genome since the initial draft
was published in 2001. In the years since, much progress has been made in identifying …
was published in 2001. In the years since, much progress has been made in identifying …
Genetics of human brain development
Brain development in humans is achieved through precise spatiotemporal genetic control,
the mechanisms of which remain largely elusive. Recently, integration of technological …
the mechanisms of which remain largely elusive. Recently, integration of technological …
Ensembl 2023
FJ Martin, MR Amode, A Aneja… - Nucleic acids …, 2023 - academic.oup.com
Abstract Ensembl (https://www. ensembl. org) has produced high-quality genomic resources
for vertebrates and model organisms for more than twenty years. During that time, our …
for vertebrates and model organisms for more than twenty years. During that time, our …
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 …
Towards generalist biomedical ai
Medicine is inherently multimodal, with rich data modalities spanning text, imaging,
genomics, and more. Generalist biomedical artificial intelligence (AI) systems that flexibly …
genomics, and more. Generalist biomedical artificial intelligence (AI) systems that flexibly …
[HTML][HTML] 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 …
[HTML][HTML] Increased mutation and gene conversion within human segmental duplications
Single-nucleotide variants (SNVs) in segmental duplications (SDs) have not been
systematically assessed because of the limitations of mapping short-read sequencing data …
systematically assessed because of the limitations of mapping short-read sequencing data …
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
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 …
but have not been considered as a feasible replacement for population-scale projects, being …
[HTML][HTML] Assembling the perfect bacterial genome using Oxford Nanopore and Illumina sequencing
A perfect bacterial genome assembly is one where the assembled sequence is an exact
match for the organism's genome—each replicon sequence is complete and contains no …
match for the organism's genome—each replicon sequence is complete and contains no …
Pangenome graph construction from genome alignments with Minigraph-Cactus
Pangenome graph construction from genome alignments with Minigraph-Cactus | Nature
Biotechnology Skip to main content Thank you for visiting nature.com. You are using a …
Biotechnology Skip to main content Thank you for visiting nature.com. You are using a …