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Parliament2: Fast Structural Variant Calling Using Optimized Combinations of Callers

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What this work says

Outgoing claims: the papers this work cites, builds on, or argues with.

inferredcites →https://doi.org/10.1038/nature15394openalex-snapshot

An integrated map of structural variation in 2,504 human genomes

inferredcites →https://doi.org/10.1038/nbt.2835openalex-snapshot

Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls

inferredcites →https://doi.org/10.1038/ncomms14061openalex-snapshot

Transient structural variations have strong effects on quantitative traits and reproductive isolation in fission yeast

inferredcites →https://doi.org/10.1038/nmeth.1363openalex-snapshot

BreakDancer: an algorithm for high-resolution mapping of genomic structural variation

inferredcites →https://doi.org/10.1038/nmeth.1628openalex-snapshot

CREST maps somatic structural variation in cancer genomes with base-pair resolution

inferredcites →https://doi.org/10.1038/nmeth.3505openalex-snapshot

SpeedSeq: ultra-fast personal genome analysis and interpretation

inferredcites →https://doi.org/10.1038/nrg1767openalex-snapshot

Structural variation in the human genome

inferredcites →https://doi.org/10.1038/nrg2958openalex-snapshot

Genome structural variation discovery and genotyping

inferredcites →https://doi.org/10.1038/s41587-019-0054-xopenalex-snapshot

Best practices for benchmarking germline small-variant calls in human genomes

inferredcites →https://doi.org/10.1093/bioinformatics/btp394openalex-snapshot

Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads

inferredcites →https://doi.org/10.1093/bioinformatics/bts378openalex-snapshot

DELLY: structural variant discovery by integrated paired-end and split-read analysis

inferredcites →https://doi.org/10.1093/bioinformatics/btv204openalex-snapshot

MetaSV: an accurate and integrative structural-variant caller for next generation sequencing

inferredcites →https://doi.org/10.1093/bioinformatics/btv478openalex-snapshot

svviz: a read viewer for validating structural variants

inferredcites →https://doi.org/10.1093/bioinformatics/btv710openalex-snapshot

Manta: rapid detection of structural variants and indels for germline and cancer sequencing applications

inferredcites →https://doi.org/10.1093/gigascience/giw015openalex-snapshot

Estimating the total number of phosphoproteins and phosphorylation sites in eukaryotic proteomes

inferredcites →https://doi.org/10.1093/gigascience/gix038openalex-snapshot

Alignment of 1000 Genomes Project reads to reference assembly GRCh38

inferredcites →https://doi.org/10.1101/gr.114876.110openalex-snapshot

CNVnator: An approach to discover, genotype, and characterize typical and atypical CNVs from family and population genome sequencing

inferredcites →https://doi.org/10.1109/tvcg.2014.2346248openalex-snapshot

UpSet: Visualization of Intersecting Sets

inferredcites →https://doi.org/10.1186/gb-2014-15-6-r84openalex-snapshot

LUMPY: a probabilistic framework for structural variant discovery

inferredcites →https://doi.org/10.1186/s12864-015-1479-3openalex-snapshot

Assessing structural variation in a personal genome—towards a human reference diploid genome

inferredcites →https://doi.org/10.1534/genetics.104.92940openalex-snapshot

G. H. Hardy (1908) and Hardy–Weinberg Equilibrium

What points at this work

Incoming claims: where this work appears in other papers’ reference lists and arguments.

inferred← citeshttps://doi.org/10.1002/cphg.103openalex-snapshot

A Practical Guide for Structural Variation Detection in the Human Genome

inferred← citeshttps://doi.org/10.1007/s10577-019-09623-zopenalex-snapshot

Structural variant identification and characterization

inferred← citeshttps://doi.org/10.1016/b978-0-12-821748-1.00007-5openalex-snapshot

Computational cancer genomics

inferred← citeshttps://doi.org/10.1016/j.cell.2020.05.021openalex-snapshot

Major Impacts of Widespread Structural Variation on Gene Expression and Crop Improvement in Tomato

inferred← citeshttps://doi.org/10.1016/j.expneurol.2024.114978openalex-snapshot

The GENESIS database and tools: A decade of discovery in Mendelian genomics

inferred← citeshttps://doi.org/10.1016/j.tibtech.2019.02.003openalex-snapshot

Newest Methods for Detecting Structural Variations

inferred← citeshttps://doi.org/10.1038/s41467-020-20850-5openalex-snapshot

PopDel identifies medium-size deletions simultaneously in tens of thousands of genomes

inferred← citeshttps://doi.org/10.1038/s41576-019-0180-9openalex-snapshot

Structural variation in the sequencing era

inferred← citeshttps://doi.org/10.1042/etls20190007openalex-snapshot

Variant calling and quality control of large-scale human genome sequencing data

inferred← citeshttps://doi.org/10.1093/bioinformatics/btab199openalex-snapshot

muCNV: genotyping structural variants for population-level sequencing

inferred← citeshttps://doi.org/10.1093/ve/vez060openalex-snapshot

Wide spectrum and high frequency of genomic structural variation, including transposable elements, in large double-stranded DNA viruses

inferred← citeshttps://doi.org/10.1101/2020.04.24.060202openalex-snapshot

Leveraging a WGS compression and indexing format with dynamic graph references to call structural variants

inferred← citeshttps://doi.org/10.1101/2020.05.02.074096openalex-snapshot

Multiethnic catalog of structural variants and their translational impact for disease phenotypes across 19,652 genomes

inferred← citeshttps://doi.org/10.1101/627661openalex-snapshot

Identification of Pathogenic Structural Variants in Rare Disease Patients through Genome Sequencing

inferred← citeshttps://doi.org/10.1101/gr.262667.120openalex-snapshot

Complex mosaic structural variations in human fetal brains

inferred← citeshttps://doi.org/10.1111/mec.16141openalex-snapshot

Expanding the conservation genomics toolbox: Incorporating structural variants to enhance genomic studies for species of conservation concern

inferred← citeshttps://doi.org/10.1126/science.abj6987openalex-snapshot

The complete sequence of a human genome

inferred← citeshttps://doi.org/10.1186/s12864-019-5866-zopenalex-snapshot

A clinically validated whole genome pipeline for structural variant detection and analysis

inferred← citeshttps://doi.org/10.1186/s12864-019-6153-8openalex-snapshot

Hecaton: reliably detecting copy number variation in plant genomes using short read sequencing data

inferred← citeshttps://doi.org/10.1186/s12864-020-07125-5openalex-snapshot

Towards a better understanding of the low recall of insertion variants with short-read based variant callers

inferred← citeshttps://doi.org/10.1186/s13059-019-1828-7openalex-snapshot

Structural variant calling: the long and the short of it

inferred← citeshttps://doi.org/10.1186/s13059-021-02558-xopenalex-snapshot

Hidden biases in germline structural variant detection

inferred← citeshttps://doi.org/10.1186/s13073-022-01123-wopenalex-snapshot

The multiple de novo copy number variant (MdnCNV) phenomenon presents with peri-zygotic DNA mutational signatures and multilocus pathogenic variation

inferred← citeshttps://doi.org/10.12688/f1000research.51477.1openalex-snapshot

An international virtual hackathon to build tools for the analysis of structural variants within species ranging from coronaviruses to vertebrates

inferred← citeshttps://doi.org/10.70675/3e74128cz41a0z4b8cz96b1z19936193045bopenalex-snapshot

Caractérisation et détection d'insertions constitutionnelles de grande taille dans le cadre d'un usage médical

inferred← citeshttps://doi.org/10.70675/8dcc42f6zaa6bz4ee2zb720z71c16f8f4885openalex-snapshot

Structural variant genotyping with long read data

inferred← citeshttps://doi.org/10.70675/a5247aaazc9b6z4f6fza3e2z0c21dc846ed9openalex-snapshot

Etude de transferts horizontaux de matériel génétique entre virus et animaux

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