Research graph
References from Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations. Local targets link to admitted publications; unresolved targets remain external evidence.
Accurate detection of complex structural variations using single-molecule sequencing
10.1038/s41592-018-0001-7 · 2018 · External reference
Properties of structural variants and short tandem repeats associated with gene expression and complex traits
10.1038/s41467-020-16482-4 · 2020 · External reference
An integrated map of structural variation in 2,504 human genomes
10.1038/nature15394 · 2015 · External reference
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
10.1038/s41588-021-00865-4 · 2021 · External reference
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation
10.1038/s41467-021-26856-x · 2021 · External reference
Mapping and characterization of structural variation in 17,795 human genomes
10.1038/s41586-020-2371-0 · 2020 · External reference
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project
10.1101/2024.04.18.590093 · 2024 · External reference
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
10.1101/gr.279273.124 · 2024 · External reference
Detection of mosaic and population-level structural variants with Sniffles2
10.1038/s41587-023-02024-y · 2024 · External reference
Unresolved reference
External reference
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
10.1016/j.cell.2022.08.004 · 2022 · External reference
Truvari: refined structural variant comparison preserves allelic diversity
10.1186/s13059-022-02840-6 · 2022 · External reference
genome-stratifications
2022 · External reference
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
10.4161/fly.19695 · 2012 · External reference
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
10.1093/nar/gkt1229 · 2014 · External reference
Mapping and characterization of structural variation in 17,795 human genomes
10.1038/s41586-020-2371-0 · 2020 · External reference
Analytical validation of whole exome and whole genome sequencing for clinical applications
10.1186/1755-8794-7-20 · 2014 · External reference
Whole-genome sequencing of half-a-million UK Biobank participants
10.1101/2023.12.06.23299426 · 2023 · External reference
The UK Biobank resource with deep phenotyping and genomic data
10.1038/s41586-018-0579-z · 2018 · External reference
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
10.1038/s41588-023-01314-0 · 2023 · External reference
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases
10.1038/s41588-023-01443-6 · 2023 · External reference
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
10.1097/gim.0b013e3181a53562 · 2009 · External reference
Proteomic Analysis of Lung Tissue in a Rat Acute Lung Injury Model: Identification of PRDX1 as a Promoter of Inflammation
10.1155/2014/469358 · 2014 · External reference
Plasma proteomic associations with genetics and health in the UK Biobank
10.1038/s41586-023-06592-6 · 2023 · External reference
Fibroblast growth factor 10 attenuates chronic obstructive pulmonary disease by protecting against glycocalyx impairment and endothelial apoptosis
10.1186/s12931-022-02193-5 · 2022 · External reference
Lrp1 Regulation of Pulmonary Function. Follow-Up of Human GWAS in Mice
10.1165/rcmb.2019-0444oc · 2020 · External reference
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
10.1038/s41588-021-00945-5 · 2021 · External reference
The individual and global impact of copy-number variants on complex human traits
10.1016/j.ajhg.2022.02.010 · 2022 · External reference
Overview of the BioBank Japan Project: Study design and profile
10.1016/j.je.2016.12.005 · 2017 · External reference
Genotyping and population structure of the China Kadoorie Biobank
10.1101/2022.05.02.22274487 · 2022 · External reference
The Singapore National Precision Medicine Strategy
10.1038/s41588-022-01274-x · 2023 · External reference
A global reference for human genetic variation
10.1038/nature15393 · 2015 · External reference
African genetic diversity and adaptation inform a precision medicine agenda
10.1038/s41576-020-00306-8 · 2021 · External reference
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans
10.1038/ng2116 · 2007 · External reference
Building a knowledge graph to enable precision medicine
10.1038/s41597-023-01960-3 · 2023 · External reference
Towards realizing the vision of precision medicine: AI based prediction of clinical drug response
10.1093/brain/awab108 · 2021 · External reference
Unresolved reference
External reference
NanoPack: visualizing and processing long-read sequencing data
10.1093/bioinformatics/bty149 · 2018 · External reference
Minimap2: pairwise alignment for nucleotide sequences
10.1093/bioinformatics/bty191 · 2018 · External reference
Unresolved reference
2019 · External reference
Sniffles issue #235
2020 · External reference
Sniffles issue #387
2023 · External reference
The impact of structural variation on human gene expression
10.1038/ng.3834 · 2017 · External reference
The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data
10.1101/115717 · 2017 · External reference
Unresolved reference
External reference
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
10.1086/521987 · 2007 · External reference
A One-Penny Imputed Genome from Next-Generation Reference Panels
10.1016/j.ajhg.2018.07.015 · 2018 · External reference
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
10.3389/fgene.2012.00035 · 2012 · External reference
Unresolved reference
External reference
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
10.3389/fgene.2012.00035 · 2012 · External reference
liftover_plink_beds
2022 · External reference
Analytical validation of whole exome and whole genome sequencing for clinical applications
10.1186/1755-8794-7-20 · 2014 · External reference
Genotype Imputation from Large Reference Panels
10.1146/annurev-genom-083117-021602 · 2018 · External reference
Second-generation PLINK: rising to the challenge of larger and richer datasets
10.1186/s13742-015-0047-8 · 2015 · External reference
Accurate, scalable and integrative haplotype estimation
10.1038/s41467-019-13225-y · 2019 · External reference
SHAPEIT 4 genetic maps
2026 · External reference
Twelve years of SAMtools and BCFtools
10.1093/gigascience/giab008 · 2021 · External reference
Unresolved reference
External reference
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets
10.1038/ng.3787 · 2017 · External reference
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
10.1038/s41588-018-0321-7 · 2019 · External reference
Computationally efficient whole-genome regression for quantitative and binary traits
10.1038/s41588-021-00870-7 · 2021 · External reference
The MR-Base platform supports systematic causal inference across the human phenome
10.7554/elife.34408 · 2018 · External reference
A more accurate method for colocalisation analysis allowing for multiple causal variants
10.1371/journal.pgen.1009440 · 2021 · External reference
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
10.1038/ng.2213 · 2012 · External reference
The MRC IEU OpenGWAS data infrastructure
10.1101/2020.08.10.244293 · 2020 · External reference
Orienting the causal relationship between imprecisely measured traits using GWAS summary data
10.1371/journal.pgen.1007081 · 2017 · External reference
Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression
10.1093/ije/dyv080 · 2015 · External reference
A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies
10.1086/519024 · 2007 · External reference
Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
10.1371/journal.pgen.1004383 · 2014 · External reference
Structural variant multi-ancestry imputation panel
2023 · External reference
Structural variation in 1,019 diverse humans based on long-read sequencing
2025 · External reference
A One-Penny Imputed Genome from Next-Generation Reference Panels
10.1016/j.ajhg.2018.07.015 · ExternalCitation · doi-reference
The individual and global impact of copy-number variants on complex human traits
10.1016/j.ajhg.2022.02.010 · ExternalCitation · doi-reference
High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios
10.1016/j.cell.2022.08.004 · ExternalCitation · doi-reference
Overview of the BioBank Japan Project: Study design and profile
10.1016/j.je.2016.12.005 · ExternalCitation · doi-reference
A global reference for human genetic variation
10.1038/nature15393 · ExternalCitation · doi-reference
An integrated map of structural variation in 2,504 human genomes
10.1038/nature15394 · ExternalCitation · doi-reference
Conditional and joint multiple-SNP analysis of GWAS summary statistics identifies additional variants influencing complex traits
10.1038/ng.2213 · ExternalCitation · doi-reference
Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets
10.1038/ng.3787 · ExternalCitation · doi-reference
The impact of structural variation on human gene expression
10.1038/ng.3834 · ExternalCitation · doi-reference
Measurement of the human allele frequency spectrum demonstrates greater genetic drift in East Asians than in Europeans
10.1038/ng2116 · ExternalCitation · doi-reference
Accurate, scalable and integrative haplotype estimation
10.1038/s41467-019-13225-y · ExternalCitation · doi-reference
Properties of structural variants and short tandem repeats associated with gene expression and complex traits
10.1038/s41467-020-16482-4 · ExternalCitation · doi-reference
Structural variants in the Chinese population and their impact on phenotypes, diseases and population adaptation
10.1038/s41467-021-26856-x · ExternalCitation · doi-reference
African genetic diversity and adaptation inform a precision medicine agenda
10.1038/s41576-020-00306-8 · ExternalCitation · doi-reference
The UK Biobank resource with deep phenotyping and genomic data
10.1038/s41586-018-0579-z · ExternalCitation · doi-reference
Mapping and characterization of structural variation in 17,795 human genomes
10.1038/s41586-020-2371-0 · ExternalCitation · doi-reference
Plasma proteomic associations with genetics and health in the UK Biobank
10.1038/s41586-023-06592-6 · ExternalCitation · doi-reference
Detection of mosaic and population-level structural variants with Sniffles2
10.1038/s41587-023-02024-y · ExternalCitation · doi-reference
New genetic signals for lung function highlight pathways and chronic obstructive pulmonary disease associations across multiple ancestries
10.1038/s41588-018-0321-7 · ExternalCitation · doi-reference
Long-read sequencing of 3,622 Icelanders provides insight into the role of structural variants in human diseases and other traits
10.1038/s41588-021-00865-4 · ExternalCitation · doi-reference
Computationally efficient whole-genome regression for quantitative and binary traits
10.1038/s41588-021-00870-7 · ExternalCitation · doi-reference
An open approach to systematically prioritize causal variants and genes at all published human GWAS trait-associated loci
10.1038/s41588-021-00945-5 · ExternalCitation · doi-reference
The Singapore National Precision Medicine Strategy
10.1038/s41588-022-01274-x · ExternalCitation · doi-reference
Multi-ancestry genome-wide association analyses improve resolution of genes and pathways influencing lung function and chronic obstructive pulmonary disease risk
10.1038/s41588-023-01314-0 · ExternalCitation · doi-reference
Leveraging polygenic enrichments of gene features to predict genes underlying complex traits and diseases
10.1038/s41588-023-01443-6 · ExternalCitation · doi-reference
Accurate detection of complex structural variations using single-molecule sequencing
10.1038/s41592-018-0001-7 · ExternalCitation · doi-reference
Building a knowledge graph to enable precision medicine
10.1038/s41597-023-01960-3 · ExternalCitation · doi-reference
A Bayesian Measure of the Probability of False Discovery in Genetic Epidemiology Studies
10.1086/519024 · ExternalCitation · doi-reference
Rapid and Accurate Haplotype Phasing and Missing-Data Inference for Whole-Genome Association Studies By Use of Localized Haplotype Clustering
10.1086/521987 · ExternalCitation · doi-reference
NanoPack: visualizing and processing long-read sequencing data
10.1093/bioinformatics/bty149 · ExternalCitation · doi-reference
Minimap2: pairwise alignment for nucleotide sequences
10.1093/bioinformatics/bty191 · ExternalCitation · doi-reference
Towards realizing the vision of precision medicine: AI based prediction of clinical drug response
10.1093/brain/awab108 · ExternalCitation · doi-reference
Twelve years of SAMtools and BCFtools
10.1093/gigascience/giab008 · ExternalCitation · doi-reference
Mendelian randomization with invalid instruments: effect estimation and bias detection through Egger regression
10.1093/ije/dyv080 · ExternalCitation · doi-reference
The NHGRI GWAS Catalog, a curated resource of SNP-trait associations
10.1093/nar/gkt1229 · ExternalCitation · doi-reference
Clinical and genetic aspects of primary ciliary dyskinesia/Kartagener syndrome
10.1097/gim.0b013e3181a53562 · ExternalCitation · doi-reference
The Sentieon Genomics Tools - A fast and accurate solution to variant calling from next-generation sequence data
10.1101/115717 · ExternalCitation · doi-reference
The MRC IEU OpenGWAS data infrastructure
10.1101/2020.08.10.244293 · ExternalCitation · doi-reference
Genotyping and population structure of the China Kadoorie Biobank
10.1101/2022.05.02.22274487 · ExternalCitation · doi-reference
Whole-genome sequencing of half-a-million UK Biobank participants
10.1101/2023.12.06.23299426 · ExternalCitation · doi-reference
Long-read sequencing and structural variant characterization in 1,019 samples from the 1000 Genomes Project
10.1101/2024.04.18.590093 · ExternalCitation · doi-reference
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
10.1101/gr.279273.124 · ExternalCitation · doi-reference
Genotype Imputation from Large Reference Panels
10.1146/annurev-genom-083117-021602 · ExternalCitation · doi-reference
Proteomic Analysis of Lung Tissue in a Rat Acute Lung Injury Model: Identification of PRDX1 as a Promoter of Inflammation
10.1155/2014/469358 · ExternalCitation · doi-reference
Lrp1 Regulation of Pulmonary Function. Follow-Up of Human GWAS in Mice
10.1165/rcmb.2019-0444oc · ExternalCitation · doi-reference
Analytical validation of whole exome and whole genome sequencing for clinical applications
10.1186/1755-8794-7-20 · ExternalCitation · doi-reference
Fibroblast growth factor 10 attenuates chronic obstructive pulmonary disease by protecting against glycocalyx impairment and endothelial apoptosis
10.1186/s12931-022-02193-5 · ExternalCitation · doi-reference
Truvari: refined structural variant comparison preserves allelic diversity
10.1186/s13059-022-02840-6 · ExternalCitation · doi-reference
Second-generation PLINK: rising to the challenge of larger and richer datasets
10.1186/s13742-015-0047-8 · ExternalCitation · doi-reference
Bayesian Test for Colocalisation between Pairs of Genetic Association Studies Using Summary Statistics
10.1371/journal.pgen.1004383 · ExternalCitation · doi-reference
Orienting the causal relationship between imprecisely measured traits using GWAS summary data
10.1371/journal.pgen.1007081 · ExternalCitation · doi-reference
A more accurate method for colocalisation analysis allowing for multiple causal variants
10.1371/journal.pgen.1009440 · ExternalCitation · doi-reference
Using Drosophila melanogaster as a Model for Genotoxic Chemical Mutational Studies with a New Program, SnpSift
10.3389/fgene.2012.00035 · ExternalCitation · doi-reference
A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
10.4161/fly.19695 · ExternalCitation · doi-reference
The MR-Base platform supports systematic causal inference across the human phenome
10.7554/elife.34408 · ExternalCitation · doi-reference
