On the public citation graph
Exautomate: A user-friendly tool for region-based rare variant association analysis (RVAA)
0 signed · 58 inferred · view as graph
Inferred edges come from two machine sources: sweeps of open repository metadata (mostly SSRN and Zenodo), and a bulk OpenAlex citation snapshot. Every row below is labelled with the one it came from. Neither is a complete citation index — absence here is not evidence of absence.
Is this your work? Sign in with ORCID and put your name on the
claims that are yours.
Reference health. See whether every reference in this work resolves to a
known work and none has been retracted — and get a dated CiteStamped
badge you can embed.
What this work says
Outgoing claims: the papers this work cites, builds on, or argues with.
inferredcites →https://doi.org/10.1002/gepi.21689openalex-snapshot
Robust and Powerful Tests for Rare Variants Using Fisher's Method to Combine Evidence of Association From Two or More Complementary Tests
inferredcites →https://doi.org/10.1002/humu.23634openalex-snapshot
ClinVar database of global familial hypercholesterolemia‐associated DNA variants
inferredcites →https://doi.org/10.1007/978-0-387-98141-3openalex-snapshot
ggplot2: Elegant Graphics for Data Analysis
inferredcites →https://doi.org/10.1007/978-1-4939-7868-7_6openalex-snapshot
Meta-Analysis of Common and Rare Variants
inferredcites →https://doi.org/10.1007/s11357-016-9885-2openalex-snapshot
Gene-based aggregate SNP associations between candidate AD genes and cognitive decline
inferredcites →https://doi.org/10.1007/s12561-012-9062-9openalex-snapshot
Statistical Challenges in Sequence-Based Association Studies with Population- and Family-Based Designs
inferredcites →https://doi.org/10.1016/j.ajhg.2011.05.029openalex-snapshot
Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
inferredcites →https://doi.org/10.1016/j.ajhg.2012.06.007openalex-snapshot
Optimal Unified Approach for Rare-Variant Association Testing with Application to Small-Sample Case-Control Whole-Exome Sequencing Studies
inferredcites →https://doi.org/10.1016/j.ajhg.2014.06.009openalex-snapshot
Rare-Variant Association Analysis: Study Designs and Statistical Tests
inferredcites →https://doi.org/10.1016/j.ajhg.2016.05.007openalex-snapshot
Exome Genotyping Identifies Pleiotropic Variants Associated with Red Blood Cell Traits
inferredcites →https://doi.org/10.1016/j.drudis.2017.01.014openalex-snapshot
Next-generation sequencing: big data meets high performance computing
inferredcites →https://doi.org/10.1016/j.je.2016.12.006openalex-snapshot
Overview of BioBank Japan follow-up data in 32 diseases
inferredcites →https://doi.org/10.1016/j.metabol.2015.09.020openalex-snapshot
Resequencing of the CETP gene in American whites and African blacks: Association of rare and common variants with HDL-cholesterol levels
inferredcites →https://doi.org/10.1016/j.tig.2018.09.007openalex-snapshot
Genomic and Phenomic Research in the 21st Century
inferredcites →https://doi.org/10.1038/ejhg.2014.268openalex-snapshot
Resequencing of LPL in African Blacks and associations with lipoprotein–lipid levels
inferredcites →https://doi.org/10.1038/nature21039openalex-snapshot
Rare and low-frequency coding variants alter human adult height
inferredcites →https://doi.org/10.1038/ng.118openalex-snapshot
Rare independent mutations in renal salt handling genes contribute to blood pressure variation
inferredcites →https://doi.org/10.1038/ng.2892openalex-snapshot
A general framework for estimating the relative pathogenicity of human genetic variants
inferredcites →https://doi.org/10.1038/ng.3249openalex-snapshot
A recombined allele of the lipase gene CEL and its pseudogene CELP confers susceptibility to chronic pancreatitis
inferredcites →https://doi.org/10.1038/ng1509openalex-snapshot
Low LDL cholesterol in individuals of African descent resulting from frequent nonsense mutations in PCSK9
inferredcites →https://doi.org/10.1038/ng1984openalex-snapshot
Population-based resequencing of ANGPTL4 uncovers variations that reduce triglycerides and increase HDL
inferredcites →https://doi.org/10.1038/nrg2481openalex-snapshot
Plasma lipoproteins: genetic influences and clinical implications
inferredcites →https://doi.org/10.1038/s41569-018-0052-6openalex-snapshot
The complex molecular genetics of familial hypercholesterolaemia
inferredcites →https://doi.org/10.1038/s41588-017-0011-xopenalex-snapshot
Protein-altering variants associated with body mass index implicate pathways that control energy intake and expenditure in obesity
inferredcites →https://doi.org/10.1056/nejmoa054013openalex-snapshot
Sequence Variations in PCSK9, Low LDL, and Protection against Coronary Heart Disease
inferredcites →https://doi.org/10.1080/21678421.2016.1213852openalex-snapshot
Rare genetic variation in UNC13A may modify survival in amyotrophic lateral sclerosis
inferredcites →https://doi.org/10.1093/bioinformatics/btp324openalex-snapshot
Fast and accurate short read alignment with Burrows–Wheeler transform
inferredcites →https://doi.org/10.1093/bioinformatics/btq033openalex-snapshot
BEDTools: a flexible suite of utilities for comparing genomic features
inferredcites →https://doi.org/10.1093/bioinformatics/btq671openalex-snapshot
Tabix: fast retrieval of sequence features from generic TAB-delimited files
inferredcites →https://doi.org/10.1093/bioinformatics/btr330openalex-snapshot
The variant call format and VCFtools
inferredcites →https://doi.org/10.1093/bioinformatics/btr509openalex-snapshot
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
inferredcites →https://doi.org/10.1093/nar/gkq603openalex-snapshot
ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
inferredcites →https://doi.org/10.1093/nar/gky1016openalex-snapshot
CADD: predicting the deleteriousness of variants throughout the human genome
inferredcites →https://doi.org/10.1097/mol.0000000000000386openalex-snapshot
Complexity of mechanisms among human proprotein convertase subtilisin–kexin type 9 variants
inferredcites →https://doi.org/10.1101/452532openalex-snapshot
Challenges and recommendations to improve installability and archival stability of omics computational tools
inferredcites →https://doi.org/10.1101/531210openalex-snapshot
The mutational constraint spectrum quantified from variation in 141,456 humans
inferredcites →https://doi.org/10.1101/gr.107524.110openalex-snapshot
The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
inferredcites →https://doi.org/10.1126/science.1099870openalex-snapshot
Multiple Rare Alleles Contribute to Low Plasma Levels of HDL Cholesterol
inferredcites →https://doi.org/10.1146/annurev-genom-091416-035517openalex-snapshot
The Future of Genomic Studies Must Be Globally Representative: Perspectives from PAGE
inferredcites →https://doi.org/10.1146/annurev-pharmtox-010716-104944openalex-snapshot
PCSK9: Regulation and Target for Drug Development for Dyslipidemia
inferredcites →https://doi.org/10.1161/atvbaha.116.308027openalex-snapshot
Polygenic Versus Monogenic Causes of Hypercholesterolemia Ascertained Clinically
inferredcites →https://doi.org/10.1186/s12920-016-0190-9openalex-snapshot
Integration of bioinformatics and imaging informatics for identifying rare PSEN1 variants in Alzheimer’s disease
inferredcites →https://doi.org/10.1186/s12929-014-0088-9openalex-snapshot
Identifying rare and common disease associated variants in genomic data using Parkinson's disease as a model
inferredcites →https://doi.org/10.1186/s13073-015-0138-2openalex-snapshot
Rare variant association studies: considerations, challenges and opportunities
inferredcites →https://doi.org/10.1186/s13742-015-0047-8openalex-snapshot
Second-generation PLINK: rising to the challenge of larger and richer datasets
inferredcites →https://doi.org/10.1194/jlr.d045963openalex-snapshot
LipidSeq: a next-generation clinical resequencing panel for monogenic dyslipidemias
inferredcites →https://doi.org/10.1194/jlr.m043265openalex-snapshot
Lipoprotein lipase gene sequencing and plasma lipid profile
inferredcites →https://doi.org/10.1371/journal.pcbi.1004993openalex-snapshot
Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level
inferredcites →https://doi.org/10.1371/journal.pgen.1005165openalex-snapshot
The Power of Gene-Based Rare Variant Methods to Detect Disease-Associated Variation and Test Hypotheses About Complex Disease
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/10.1371/journal.pone.0188566openalex-snapshot
A non-threshold region-specific method for detecting rare variants in complex diseases
inferredcites →https://doi.org/10.18637/jss.v021.i12openalex-snapshot
Reshaping Data with the reshape Package
inferredcites →https://doi.org/10.3389/fgene.2015.00136openalex-snapshot
PCSK9 variation and association with blood pressure in African Americans: preliminary findings from the HyperGEN and REGARDS studies
What points at this work
Incoming claims: where this work appears in other papers’ reference lists and arguments.
inferred← citeshttps://doi.org/10.1016/j.jacl.2020.11.007openalex-snapshot
Ancestry-specific profiles of genetic determinants of severe hypertriglyceridemia
inferred← citeshttps://doi.org/10.1038/s41525-021-00243-3openalex-snapshot
Contribution of rare variant associations to neurodegenerative disease presentation
inferred← citeshttps://doi.org/10.1161/atvbaha.120.314168openalex-snapshot
Loss-of-Function CREB3L3 Variants in Patients With Severe Hypertriglyceridemia
Editorial review for independent work. ICSAC — the Institute for Complexity
Science and Advanced Computing — runs a structured editorial panel for researchers
publishing outside journals, and publishes on CiteStamp rails. Submission is free
and goes through ORCID: icsacinstitute.org/submit.