Research graph
References from ASVBM: Structural variant benchmarking with local joint analysis for multiple callsets. Local targets link to admitted publications; unresolved targets remain external evidence.
10.1016/j.compbiomed.2022.105534
10.1016/j.compbiomed.2022.105534 · External reference
10.1073/pnas.1821550116
10.1073/pnas.1821550116 · External reference
Whole genome sequencing identifies structural variants contributing to hematologic traits in the NHLBI TOPMed program
10.1038/s41467-022-35354-7 · 2022 · External reference
10.1038/nrg1767
10.1038/nrg1767 · External reference
10.1073/pnas.74.12.5463
10.1073/pnas.74.12.5463 · External reference
BTA, a novel reagent for DNA attachment on glass and efficient generation of solid-phase amplified DNA colonies
10.1093/nar/gnj023 · 2006 · External reference
10.1186/1471-2164-13-375
10.1186/1471-2164-13-375 · External reference
10.1038/nnano.2009.12
10.1038/nnano.2009.12 · External reference
10.1038/nature13907
10.1038/nature13907 · External reference
10.1371/journal.pone.0114253
10.1371/journal.pone.0114253 · External reference
10.1145/2506583.2506612
10.1145/2506583.2506612 · External reference
misFinder: identify mis-assemblies in an unbiased manner using reference and paired-end reads
10.1186/s12859-015-0818-3 · 2015 · External reference
Genome sequence assembly algorithms and misassembly identification methods
10.1007/s11033-022-07919-8 · 2022 · External reference
10.1038/nrg2958
10.1038/nrg2958 · External reference
10.1038/s41587-020-0538-8
10.1038/s41587-020-0538-8 · External reference
VolcanoSV enables accurate and robust structural variant calling in diploid genomes from single-molecule long read sequencing
10.1038/s41467-024-51282-0 · 2024 · External reference
10.1016/j.tibtech.2018.07.013
10.1016/j.tibtech.2018.07.013 · External reference
NanoCaller for accurate detection of SNPs and indels in difficult-to-map regions from long-read sequencing by haplotype-aware deep neural networks
10.1186/s13059-021-02472-2 · 2021 · External reference
10.1038/s41587-019-0054-x
10.1038/s41587-019-0054-x · External reference
10.1038/s41576-023-00590-0
10.1038/s41576-023-00590-0 · External reference
10.1038/ncomms14061
10.1038/ncomms14061 · External reference
10.1186/s13059-022-02840-6
10.1186/s13059-022-02840-6 · External reference
10.1016/j.cell.2018.12.019
10.1016/j.cell.2018.12.019 · External reference
10.1186/s13059-019-1828-7
10.1186/s13059-019-1828-7 · External reference
10.1038/nrg3117
10.1038/nrg3117 · External reference
A practical guide for structural variation detection in the human genome
10.1002/cphg.103 · 2020 · External reference
Repeat- and error-aware comparison of deletions
10.1093/bioinformatics/btv304 · 2015 · External reference
An optimization framework for unsupervised identification of rare copy number variation from SNP array data
10.1186/gb-2009-10-10-r119 · 2009 · External reference
10.1038/s41587-019-0217-9
10.1038/s41587-019-0217-9 · External reference
10.1371/journal.pone.0163962
10.1371/journal.pone.0163962 · External reference
The international genome sample resource (IGSR) collection of open human genomic variation resources
10.1093/nar/gkz836 · 2020 · External reference
10.1093/gigascience/giab008
10.1093/gigascience/giab008 · External reference
Multi-platform discovery of haplotype-resolved structural variation in human genomes
10.1038/s41467-018-08148-z · 2019 · External reference
10.1093/bioinformatics/btr330
10.1093/bioinformatics/btr330 · External reference
Developments in algorithms for sequence alignment: a review
10.3390/biom12040546 · 2022 · External reference
Syncmers are more sensitive than minimizers for selecting conserved k‑mers in biological sequences
10.7717/peerj.10805 · 2021 · External reference
10.1038/s41592-022-01674-1
10.1038/s41592-022-01674-1 · External reference
Deciphering the exact breakpoints of structural variations using long sequencing reads with DeBreak
10.1038/s41467-023-35996-1 · 2023 · External reference
Detection of mosaic and population-level structural variants with Sniffles2
2024 · External reference
Long-read-based human genomic structural variation detection with cuteSV
10.1186/s13059-020-02107-y · 2020 · External reference
10.1093/bioinformatics/btz041
10.1093/bioinformatics/btz041 · External reference
10.1038/nmeth.1363
10.1038/nmeth.1363 · External reference
10.1101/gr.114876.110
10.1101/gr.114876.110 · External reference
10.1093/bioinformatics/btv710
10.1093/bioinformatics/btv710 · External reference
PBHoney: identifying genomic variants via long-read discordance and interrupted mapping
10.1186/1471-2105-15-180 · 2014 · External reference
NextSV: a meta-caller for structural variants from low-coverage long-read sequencing data
10.1186/s12859-018-2207-1 · 2018 · External reference
10.1093/nar/gkac039
10.1093/nar/gkac039 · External reference
10.1093/bioinformatics/bty191
10.1093/bioinformatics/bty191 · External reference
10.1038/s41592-018-0001-7
10.1038/s41592-018-0001-7 · External reference
Comparison and benchmark of structural variants detected from long read and long-read assembly
2023 · External reference
Jointly benchmarking small and structural variant calls with vcfdist
10.1186/s13059-024-03394-5 · 2024 · External reference
TT-Mars: structural variants assessment based on haplotype-resolved assemblies
10.1186/s13059-022-02666-2 · 2022 · External reference
10.1016/j.tig.2022.06.003
10.1016/j.tig.2022.06.003 · External reference
10.1093/bioinformatics/btac830
10.1093/bioinformatics/btac830 · External reference
