Jasmine and Iris: population-scale structural variant comparison and analysis
Published 2023 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
Jasmine and Iris: population-scale structural variant comparison and analysis
Authors
Keywords
-
Journal
NATURE METHODS
Volume -, Issue -, Pages -
Publisher
Springer Science and Business Media LLC
Online
2023-01-20
DOI
10.1038/s41592-022-01753-3
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Long-read mapping to repetitive reference sequences using Winnowmap2
- (2022) Chirag Jain et al. NATURE METHODS
- A complete reference genome improves analysis of human genetic variation
- (2022) Sergey Aganezov et al. SCIENCE
- The complete sequence of a human genome
- (2022) Sergey Nurk et al. SCIENCE
- High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
- (2022) Marta Byrska-Bishop et al. CELL
- Macrophage Migration Inhibitory Factor (MIF) and Its Homologue D-Dopachrome Tautomerase (DDT) Inversely Correlate with Inflammation in Discoid Lupus Erythematosus
- (2021) Rosario Caltabiano et al. MOLECULES
- De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families
- (2021) Jonathan R. Belyeu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Haplotype-resolved diverse human genomes and integrated analysis of structural variation
- (2021) Peter Ebert et al. SCIENCE
- Optimized sample selection for cost-efficient long-read population sequencing
- (2021) T. Rhyker Ranallo-Benavidez et al. GENOME RESEARCH
- Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
- (2021) Doruk Beyter et al. NATURE GENETICS
- Structural variants are a major source of gene expression differences in humans and often affect multiple nearby genes
- (2021) Alexandra J Scott et al. GENOME RESEARCH
- Pangenomics enables genotyping of known structural variants in 5202 diverse genomes
- (2021) Jouni Sirén et al. SCIENCE
- Mapping and characterization of structural variation in 17,795 human genomes
- (2020) Haley J. Abel et al. NATURE
- The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2020 update
- (2020) Vahid Jalili et al. NUCLEIC ACIDS RESEARCH
- Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato
- (2020) Michael Alonge et al. CELL
- A robust benchmark for detection of germline large deletions and insertions
- (2020) Justin M. Zook et al. NATURE BIOTECHNOLOGY
- Comprehensive analysis of structural variants in breast cancer genomes using single-molecule sequencing
- (2020) Sergey Aganezov et al. GENOME RESEARCH
- The UCSC Genome Browser database: 2021 update
- (2020) Jairo Navarro Gonzalez et al. NUCLEIC ACIDS RESEARCH
- Characterizing the Major Structural Variant Alleles of the Human Genome
- (2019) Peter A. Audano et al. CELL
- svtools: population-scale analysis of structural variation
- (2019) David E Larson et al. BIOINFORMATICS
- Multi-platform discovery of haplotype-resolved structural variation in human genomes
- (2019) Mark J. P. Chaisson et al. Nature Communications
- Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
- (2019) Aaron M. Wenger et al. NATURE BIOTECHNOLOGY
- GraphTyper2 enables population-scale genotyping of structural variation using pangenome graphs
- (2019) Hannes P. Eggertsson et al. Nature Communications
- Minimap2: pairwise alignment for nucleotide sequences
- (2018) Heng Li BIOINFORMATICS
- Complex rearrangements and oncogene amplifications revealed by long-read DNA and RNA sequencing of a breast cancer cell line
- (2018) Maria Nattestad et al. GENOME RESEARCH
- Accurate detection of complex structural variations using single-molecule sequencing
- (2018) Fritz J. Sedlazeck et al. NATURE METHODS
- Piercing the dark matter: bioinformatics of long-range sequencing and mapping
- (2018) Fritz J. Sedlazeck et al. NATURE REVIEWS GENETICS
- Paternally inherited cis-regulatory structural variants are associated with autism
- (2018) William M. Brandler et al. SCIENCE
- CADD: predicting the deleteriousness of variants throughout the human genome
- (2018) Philipp Rentzsch et al. NUCLEIC ACIDS RESEARCH
- Fast and accurate de novo genome assembly from long uncorrected reads
- (2017) Robert Vaser et al. GENOME RESEARCH
- Contribution of de novo and mosaicTP53mutations to Li-Fraumeni syndrome
- (2017) Mariette Renaux-Petel et al. JOURNAL OF MEDICAL GENETICS
- Fast, scalable prediction of deleterious noncoding variants from functional and population genomic data
- (2017) Yi-Fei Huang et al. NATURE GENETICS
- The impact of structural variation on human gene expression
- (2017) Colby Chiang et al. NATURE GENETICS
- Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast
- (2017) Daniel C. Jeffares et al. Nature Communications
- A Frameshift in CSF2RB Predominant Among Ashkenazi Jews Increases Risk for Crohn's Disease and Reduces Monocyte Signaling via GM-CSF
- (2016) Ling-Shiang Chuang et al. GASTROENTEROLOGY
- Coming of age: ten years of next-generation sequencing technologies
- (2016) Sara Goodwin et al. NATURE REVIEWS GENETICS
- A global reference for human genetic variation
- (2015) Richard A. Gibbs et al. NATURE
- The Ensembl Regulatory Build
- (2015) Daniel R Zerbino et al. GENOME BIOLOGY
- Identifying Causal Variants at Loci with Multiple Signals of Association
- (2014) F. Hormozdiari et al. GENETICS
- The contribution of de novo coding mutations to autism spectrum disorder
- (2014) Ivan Iossifov et al. NATURE
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Accurate de novo and transmitted indel detection in exome-capture data using microassembly
- (2014) Giuseppe Narzisi et al. NATURE METHODS
- Malignant Melanotic Schwannian Tumor
- (2013) Jorge Torres-Mora et al. AMERICAN JOURNAL OF SURGICAL PATHOLOGY
- Transcriptome and genome sequencing uncovers functional variation in humans
- (2013) Tuuli Lappalainen et al. NATURE
- De novo mutations in human genetic disease
- (2012) Joris A. Veltman et al. NATURE REVIEWS GENETICS
- A copy number variation morbidity map of developmental delay
- (2011) Gregory M Cooper et al. NATURE GENETICS
- Genome structural variation discovery and genotyping
- (2011) Can Alkan et al. NATURE REVIEWS GENETICS
- PHAST and RPHAST: phylogenetic analysis with space/time models
- (2010) M. J. Hubisz et al. BRIEFINGS IN BIOINFORMATICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now