User profiles for Sergey Aganezov
Sergey AganezovGenomic Applications at Oxford Nanopore Technologies, Inc Verified email at nanoporetech.com Cited by 4118 |
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. …
Complete genomic and epigenetic maps of human centromeres
Existing human genome assemblies have almost entirely excluded repetitive sequences
within and near centromeres, limiting our understanding of their organization, evolution, and …
within and near centromeres, limiting our understanding of their organization, evolution, and …
[PDF][PDF] Major impacts of widespread structural variation on gene expression and crop improvement in tomato
Structural variants (SVs) underlie important crop improvement and domestication traits.
However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. …
However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. …
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 …
Highly evolvable malaria vectors: The genomes of 16 Anopheles mosquitoes
INTRODUCTION Control of mosquito vectors has historically proven to be an effective
means of eliminating malaria. Human malaria is transmitted only by mosquitoes in the genus …
means of eliminating malaria. Human malaria is transmitted only by mosquitoes in the genus …
[HTML][HTML] Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing
Advancing crop genomics requires efficient genetic systems enabled by high-quality
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating assembly …
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating assembly …
Jasmine and Iris: population-scale structural variant comparison and analysis
The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …
because SVs vary across individuals and are discovered through imprecise read …
Automated assembly scaffolding elevates a new tomato system for high-throughput genome editing
M Alonge, L Lebeigle, M Kirsche, S Aganezov, X Wang… - BioRxiv, 2021 - biorxiv.org
Advancing crop genomics requires efficient genetic systems enabled by high-quality
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating assembly …
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating assembly …
[PDF][PDF] Benchmarking challenging small variants with linked and long reads
Genome in a Bottle benchmarks are widely used to help validate clinical sequencing pipelines
and develop variant calling and sequencing methods. Here we use accurate linked and …
and develop variant calling and sequencing methods. Here we use accurate linked and …
Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing
Improved identification of structural variants (SVs) in cancer can lead to more targeted and
effective treatment options as well as advance our basic understanding of the disease and its …
effective treatment options as well as advance our basic understanding of the disease and its …