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An open resource of structural variation for medical and population genetics

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What this work says

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

inferredcites →https://doi.org/10.1001/jama.2018.18179openalex-snapshot

Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation

inferredcites →https://doi.org/10.1007/s00439-015-1631-9openalex-snapshot

Clinical sequencing: is WGS the better WES?

inferredcites →https://doi.org/10.1016/0040-5809(75)90020-9openalex-snapshot

On the number of segregating sites in genetical models without recombination

inferredcites →https://doi.org/10.1016/j.ajhg.2010.04.006openalex-snapshot

Consensus Statement: Chromosomal Microarray Is a First-Tier Clinical Diagnostic Test for Individuals with Developmental Disabilities or Congenital Anomalies

inferredcites →https://doi.org/10.1016/j.ajhg.2015.02.005openalex-snapshot

Chromothripsis in Healthy Individuals Affects Multiple Protein-Coding Genes and Can Result in Severe Congenital Abnormalities in Offspring

inferredcites →https://doi.org/10.1016/j.ajhg.2015.05.012openalex-snapshot

Paired-Duplication Signatures Mark Cryptic Inversions and Other Complex Structural Variation

inferredcites →https://doi.org/10.1016/j.ajhg.2017.06.005openalex-snapshot

10 Years of GWAS Discovery: Biology, Function, and Translation

inferredcites →https://doi.org/10.1016/j.cell.2012.03.028openalex-snapshot

Sequencing Chromosomal Abnormalities Reveals Neurodevelopmental Loci that Confer Risk across Diagnostic Boundaries

inferredcites →https://doi.org/10.1016/j.cell.2015.04.004openalex-snapshot

Disruptions of Topological Chromatin Domains Cause Pathogenic Rewiring of Gene-Enhancer Interactions

inferredcites →https://doi.org/10.1016/j.cell.2017.08.047openalex-snapshot

Genomic Patterns of De Novo Mutation in Simplex Autism

inferredcites →https://doi.org/10.1016/j.cell.2018.12.019openalex-snapshot

Characterizing the Major Structural Variant Alleles of the Human Genome

inferredcites →https://doi.org/10.1016/j.gde.2016.08.001openalex-snapshot

Human adaptation and evolution by segmental duplication

inferredcites →https://doi.org/10.1016/j.tig.2008.03.001openalex-snapshot

The functional impact of structural variation in humans

inferredcites →https://doi.org/10.1016/j.tig.2010.04.002openalex-snapshot

Human genome diversity: frequently asked questions

inferredcites →https://doi.org/10.1016/s0140-6736(14)61705-0openalex-snapshot

Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

inferredcites →https://doi.org/10.1038/gim.2013.73openalex-snapshot

ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing

inferredcites →https://doi.org/10.1038/gim.2016.90openalex-snapshot

Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples

inferredcites →https://doi.org/10.1038/nature08516openalex-snapshot

Origins and functional impact of copy number variation in the human genome

inferredcites →https://doi.org/10.1038/nature08822openalex-snapshot

The landscape of somatic copy-number alteration across human cancers

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/nature16549openalex-snapshot

Schizophrenia risk from complex variation of complement component 4

inferredcites →https://doi.org/10.1038/nature18642openalex-snapshot

The genetic architecture of type 2 diabetes

inferredcites →https://doi.org/10.1038/nature19057openalex-snapshot

Analysis of protein-coding genetic variation in 60,706 humans

inferredcites →https://doi.org/10.1038/nature19800openalex-snapshot

Formation of new chromatin domains determines pathogenicity of genomic duplications

inferredcites →https://doi.org/10.1038/nbt.4227openalex-snapshot

Variation graph toolkit improves read mapping by representing genetic variation in the reference

inferredcites →https://doi.org/10.1038/ncomms12989openalex-snapshot

A high-quality human reference panel reveals the complexity and distribution of genomic structural variants

inferredcites →https://doi.org/10.1038/ng.2202openalex-snapshot

Complex reorganization and predominant non-homologous repair following chromosomal breakage in karyotypically balanced germline rearrangements and transgenic integration

inferredcites →https://doi.org/10.1038/ng.3050openalex-snapshot

A framework for the interpretation of de novo mutation in human disease

inferredcites →https://doi.org/10.1038/ng.313openalex-snapshot

Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis

inferredcites →https://doi.org/10.1038/ng.3200openalex-snapshot

Large multiallelic copy number variations in humans

inferredcites →https://doi.org/10.1038/ng.3720openalex-snapshot

The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

inferredcites →https://doi.org/10.1038/ng.3834openalex-snapshot

The impact of structural variation on human gene expression

inferredcites →https://doi.org/10.1038/ng.806openalex-snapshot

A framework for variation discovery and genotyping using next-generation DNA sequencing data

inferredcites →https://doi.org/10.1038/ng.944openalex-snapshot

Inverted genomic segments and complex triplication rearrangements are mediated by inverted repeats in the human genome

inferredcites →https://doi.org/10.1038/nmeth.3454openalex-snapshot

Assembly and diploid architecture of an individual human genome via single-molecule technologies

inferredcites →https://doi.org/10.1038/nn.4524openalex-snapshot

Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder

inferredcites →https://doi.org/10.1038/nrg.2015.25openalex-snapshot

Mechanisms underlying structural variant formation in genomic disorders

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

Structural variation in the human genome

inferredcites →https://doi.org/10.1038/nrg3373openalex-snapshot

Phenotypic impact of genomic structural variation: insights from and for human disease

inferredcites →https://doi.org/10.1038/nrg3933openalex-snapshot

Genetic variation and the de novo assembly of human genomes

inferredcites →https://doi.org/10.1038/s41467-018-05747-8openalex-snapshot

Deep-coverage whole genome sequences and blood lipids among 16,324 individuals

inferredcites →https://doi.org/10.1038/s41467-018-08148-zopenalex-snapshot

Multi-platform discovery of haplotype-resolved structural variation in human genomes

inferredcites →https://doi.org/10.1038/s41576-018-0007-0openalex-snapshot

Structural variation in the 3D genome

inferredcites →https://doi.org/10.1038/s41586-018-0579-zopenalex-snapshot

The UK Biobank resource with deep phenotyping and genomic data

inferredcites →https://doi.org/10.1038/s41586-019-1312-2openalex-snapshot

Noncoding deletions reveal a gene that is critical for intestinal function

inferredcites →https://doi.org/10.1038/s41588-018-0107-yopenalex-snapshot

An analytical framework for whole-genome sequence association studies and its implications for autism spectrum disorder

inferredcites →https://doi.org/10.1038/s41593-017-0017-9openalex-snapshot

Whole genome sequencing in psychiatric disorders: the WGSPD consortium

inferredcites →https://doi.org/10.1056/nejmp1500523openalex-snapshot

A New Initiative on Precision Medicine

inferredcites →https://doi.org/10.1093/hmg/ddr073openalex-snapshot

Chromothripsis as a mechanism driving complex de novo structural rearrangements in the germline†

inferredcites →https://doi.org/10.1093/nar/gky1120openalex-snapshot

The NHGRI-EBI GWAS Catalog of published genome-wide association studies, targeted arrays and summary statistics 2019

inferredcites →https://doi.org/10.1093/nar/gky538openalex-snapshot

Human copy number variants are enriched in regions of low mappability

inferredcites →https://doi.org/10.1101/gr.082016.108openalex-snapshot

Copy number variation and evolution in humans and chimpanzees

inferredcites →https://doi.org/10.1101/gr.138300openalex-snapshot

Detecting Gene Copy Number Fluctuations in Tumor Cells by Microarray Analysis of Genomic Representations

inferredcites →https://doi.org/10.1101/gr.214007.116openalex-snapshot

Discovery and genotyping of structural variation from long-read haploid genome sequence data

inferredcites →https://doi.org/10.1126/science.1138659openalex-snapshot

Strong Association of De Novo Copy Number Mutations with Autism

inferredcites →https://doi.org/10.1126/science.aan2261openalex-snapshot

Paternally inherited cis-regulatory structural variants are associated with autism

inferredcites →https://doi.org/10.1126/science.aat6576openalex-snapshot

Genome-wide de novo risk score implicates promoter variation in autism spectrum disorder

inferredcites →https://doi.org/10.1186/gb-2002-3-2-research0008openalex-snapshot

Selection in the evolution of gene duplications

inferredcites →https://doi.org/10.1186/s13059-017-1158-6openalex-snapshot

Defining the diverse spectrum of inversions, complex structural variation, and chromothripsis in the morbid human genome

inferredcites →https://doi.org/10.1186/s13059-019-1720-5openalex-snapshot

Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing

inferredcites →https://doi.org/10.1371/journal.pgen.1002236openalex-snapshot

A Comprehensive Map of Mobile Element Insertion Polymorphisms in Humans

inferredcites →https://doi.org/10.1371/journal.pmed.1001779openalex-snapshot

UK Biobank: An Open Access Resource for Identifying the Causes of a Wide Range of Complex Diseases of Middle and Old Age

inferredcites →https://doi.org/10.1681/asn.2015111210openalex-snapshot

Fine Mapping Implicates a Deletion of CFHR1 and CFHR3 in Protection from IgA Nephropathy in Han Chinese

What points at this work

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

inferred← citeshttps://doi.org/10.1001/jamanetworkopen.2020.3959openalex-snapshot

Association of Rare Pathogenic DNA Variants for Familial Hypercholesterolemia, Hereditary Breast and Ovarian Cancer Syndrome, and Lynch Syndrome With Disease Risk in Adults According to Family History

inferred← citeshttps://doi.org/10.1002/humu.23998openalex-snapshot

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

inferred← citeshttps://doi.org/10.1002/mgg3.1154openalex-snapshot

Genome sequencing identifies a homozygous inversion disrupting QDPR as a cause for dihydropteridine reductase deficiency

inferred← citeshttps://doi.org/10.1007/s00439-020-02179-7openalex-snapshot

Identifying disease-causing mutations in genomes of single patients by computational approaches

inferred← citeshttps://doi.org/10.1007/s00439-020-02242-3openalex-snapshot

Hybrid sequencing resolves two germline ultra-complex chromosomal rearrangements consisting of 137 breakpoint junctions in a single carrier

inferred← citeshttps://doi.org/10.1016/j.ajhg.2021.02.012openalex-snapshot

De novo structural mutation rates and gamete-of-origin biases revealed through genome sequencing of 2,396 families

inferred← citeshttps://doi.org/10.1016/j.isci.2021.102917openalex-snapshot

A global map of associations between types of protein posttranslational modifications and human genetic diseases

inferred← citeshttps://doi.org/10.1038/s41398-020-0760-7openalex-snapshot

Rare genetic susceptibility variants assessment in autism spectrum disorder: detection rate and practical use

inferred← citeshttps://doi.org/10.1038/s41398-021-01211-2openalex-snapshot

Genome sequencing broadens the range of contributing variants with clinical implications in schizophrenia

inferred← citeshttps://doi.org/10.1038/s41421-020-00231-4openalex-snapshot

Initial whole-genome sequencing and analysis of the host genetic contribution to COVID-19 severity and susceptibility

inferred← citeshttps://doi.org/10.1038/s41431-020-0672-2openalex-snapshot

Detection of copy-number variations from NGS data using read depth information: a diagnostic performance evaluation

inferred← citeshttps://doi.org/10.1038/s41436-020-01049-xopenalex-snapshot

Systematic large-scale assessment of the genetic architecture of left ventricular noncompaction reveals diverse etiologies

inferred← citeshttps://doi.org/10.1038/s41436-020-0759-8openalex-snapshot

Copy-number variation contributes 9% of pathogenicity in the inherited retinal degenerations

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

Structural variation in the sequencing era

inferred← citeshttps://doi.org/10.1038/s41598-020-63337-5openalex-snapshot

First interchromosomal insertion in a patient with cerebral and spinal cavernous malformations

inferred← citeshttps://doi.org/10.1038/s41598-020-65146-2openalex-snapshot

TraPS-VarI: Identifying genetic variants altering phosphotyrosine based signalling motifs

inferred← citeshttps://doi.org/10.1093/nar/gkab347openalex-snapshot

CNVxplorer: a web tool to assist clinical interpretation of CNVs in rare disease patients

inferred← citeshttps://doi.org/10.1093/nar/gkz966openalex-snapshot

Ensembl 2020

inferred← citeshttps://doi.org/10.1093/nargab/lqab037openalex-snapshot

Detection of homozygous and hemizygous complete or partial exon deletions by whole-exome sequencing

inferred← citeshttps://doi.org/10.1097/jcp.0000000000001215openalex-snapshot

Special Article: Translational Science Update. Pharmacological Implications of Emerging Schizophrenia Genetics

inferred← citeshttps://doi.org/10.1101/2020.02.15.936351openalex-snapshot

Promoter CpG density predicts downstream gene loss-of-function intolerance

inferred← citeshttps://doi.org/10.1101/2020.04.16.045120openalex-snapshot

A comprehensive benchmarking of WGS-based structural variant callers

inferred← citeshttps://doi.org/10.1101/2020.07.17.206771openalex-snapshot

The enrichment of breakpoints in late-replicating chromatin provides novel insights into chromoanagenesis mechanisms

inferred← citeshttps://doi.org/10.1101/2021.07.10.451798openalex-snapshot

CADD-SV – a framework to score the effects of structural variants in health and disease

inferred← citeshttps://doi.org/10.1101/531210openalex-snapshot

The mutational constraint spectrum quantified from variation in 141,456 humans

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

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

inferred← citeshttps://doi.org/10.1101/711754openalex-snapshot

Functional annotation of rare structural variation in the human brain

inferred← citeshttps://doi.org/10.1101/739474openalex-snapshot

SVFX: a machine-learning framework to quantify the pathogenicity of structural variants

inferred← citeshttps://doi.org/10.1101/766915openalex-snapshot

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

inferred← citeshttps://doi.org/10.1101/gr.255273.119openalex-snapshot

Determining the impact of uncharacterized inversions in the human genome by droplet digital PCR

inferred← citeshttps://doi.org/10.1101/mcs.a004721openalex-snapshot

De novo duplication on Chromosome 19 observed in nuclear family displaying neurodevelopmental disorders

inferred← citeshttps://doi.org/10.1146/annurev-biodatasci-072018-021148openalex-snapshot

Analytic and Translational Genetics

inferred← citeshttps://doi.org/10.1158/1078-0432.ccr-20-4068openalex-snapshot

Structural Variants at the BRCA1/2 Loci are a Common Source of Homologous Repair Deficiency in High-grade Serous Ovarian Carcinoma

inferred← citeshttps://doi.org/10.1161/circgen.119.002694openalex-snapshot

Integration of Large-Scale Genomic Data Sources With Evolutionary History Reveals Novel Genetic Loci for Congenital Heart Disease

inferred← citeshttps://doi.org/10.1176/appi.ajp.2020.19080834openalex-snapshot

Effect Sizes of Deletions and Duplications on Autism Risk Across the Genome

inferred← citeshttps://doi.org/10.1186/s12864-021-07395-7openalex-snapshot

MONTAGE: a new tool for high-throughput detection of mosaic copy number variation

inferred← citeshttps://doi.org/10.1186/s13059-019-1774-4openalex-snapshot

Is it time to change the reference genome?

inferred← citeshttps://doi.org/10.1186/s13059-022-02631-zopenalex-snapshot

TADA—a machine learning tool for functional annotation-based prioritisation of pathogenic CNVs

inferred← citeshttps://doi.org/10.1186/s13073-019-0692-0openalex-snapshot

Prioritization of genes driving congenital phenotypes of patients with de novo genomic structural variants

inferred← citeshttps://doi.org/10.3389/fcell.2019.00328openalex-snapshot

Forged by DXZ4, FIRRE, and ICCE: How Tandem Repeats Shape the Active and Inactive X Chromosome

inferred← citeshttps://doi.org/10.3389/fgene.2021.731515openalex-snapshot

PanSVR: Pan-Genome Augmented Short Read Realignment for Sensitive Detection of Structural Variations

inferred← citeshttps://doi.org/10.46471/gigabyte.70openalex-snapshot

svaRetro and svaNUMT: modular packages for annotating retrotransposed transcripts and nuclear integration of mitochondrial DNA in genome sequencing data

inferred← citeshttps://doi.org/10.70675/263fa2a6zfd31z46d9z865cz916d0607d015openalex-snapshot

Séquençage de génomes entiers chez des patients avec anomalies du développement et négatifs en ACPA et séquencage d'exome : vers une médecine génomique?

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