User profiles for Sergey Aganezov

Sergey Aganezov

Genomic Applications at Oxford Nanopore Technologies, Inc
Verified email at nanoporetech.com
Cited by 4118

The complete sequence of a human genome

…, N Altemose, L Uralsky, A Gershman, S Aganezov… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

Complete genomic and epigenetic maps of human centromeres

…, R Lorig-Roach, K Shafin, JK Lucas, S Aganezov… - Science, 2022 - science.org
Existing human genome assemblies have almost entirely excluded repetitive sequences
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

…, DM Tieman, H Klee, M Kirsche, S Aganezov… - Cell, 2020 - cell.com
Structural variants (SVs) underlie important crop improvement and domestication traits.
However, resolving the extent, diversity, and quantitative impact of SVs has been challenging. …

A complete reference genome improves analysis of human genetic variation

S Aganezov, SM Yan, DC Soto, M Kirsche, S Zarate… - Science, 2022 - science.org
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 …

Highly evolvable malaria vectors: The genomes of 16 Anopheles mosquitoes

DE Neafsey, RM Waterhouse, MR Abai, SS Aganezov… - Science, 2015 - science.org
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 …

[HTML][HTML] Automated assembly scaffolding using RagTag elevates a new tomato system for high-throughput genome editing

…, L Lebeigle, M Kirsche, K Jenike, S Ou, S Aganezov… - Genome biology, 2022 - Springer
Advancing crop genomics requires efficient genetic systems enabled by high-quality
personalized genome assemblies. Here, we introduce RagTag, a toolset for automating assembly …

Jasmine and Iris: population-scale structural variant comparison and analysis

…, G Prabhu, R Sherman, B Ni, A Battle, S Aganezov… - Nature …, 2023 - nature.com
The availability of long reads is revolutionizing studies of structural variants (SVs). However,
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 …

[PDF][PDF] Benchmarking challenging small variants with linked and long reads

…, JA Rosenfeld, B Ni, S Zarate, M Kirsche, S Aganezov… - Cell Genomics, 2022 - cell.com
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 …

Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing

S Aganezov, S Goodwin, RM Sherman… - Genome …, 2020 - genome.cshlp.org
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 …