ReviewHuman mutation2022
Variant interpretation using population databases: Lessons from gnomAD.
Review in Human mutation, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. It is linked to trial NCT06736158 (Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing), which is not on this map. Cited by 439 papers, 1 of them a synthesis that pooled it.
What it found
Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.
The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.
The trial behind it
Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.
Early Genomic Testing for Inherited Bleeding Disorders in Patients Without a Diagnosis After First Line Testing: a Randomized Controlled Trial
Who cites it
439 citing papers in PubMed, 1 synthesis or guideline pooled it, 41 citations in OpenAlex.
- Cross-ancestry genome-wide association study identifies implications of SORL1 in cerebral beta-amyloid deposition.Nature communications · 2025Pooled it
- The ARTEMIS trial identifies immune activation as a key predictor of neoadjuvant chemotherapy response in triple-negative breast cancer.Breast cancer research : BCR · 2026Trial
- Population Reference Data in the Molecular Diagnosis of Pathogenic CAPN3 Variants: Contextual Evidence and Interpretive Limits.Molecular diagnosis & therapy · 2026Article
- Application of Whole-Exome Sequencing in Identifying the Molecular Basis of Idiopathic Male Infertility.Journal of clinical medicine · 2026Review
- CRISPR-Enabled functional genomics in hPSCs-derived neural models for autism spectrum disorder.Metabolic brain disease · 2026Review
- Identification of Novel Transcriptional Alleles in Primary Prostate Cancer Cells and Cancer Stem Cells by Bulk RNA-Seq and Single-Cell RNA-Seq Analyses.Biomolecules · 2026Article
- Malaria-Related Host Genetic Variation in an Endemic Population of Southern Senegal.International journal of molecular sciences · 2026Article
- Deep phenotyping of EHMT1 ankyrin repeat domain missense variants in Kleefstra syndrome by multi-tiered structural genomics analyses at atomic resolution.Human molecular genetics · 2026Article
- Whole-Exome Sequencing Identifies Novel CPAMD8 Variants in Congenital Cataract and Candidate Variants in Pathologic Myopia.Molecular genetics & genomic medicine · 2026Article
- A recurrentBiochemistry and biophysics reports · 2026Article
- Essentiality-driven prediction of anticancer drug responses in preclinical and clinical contexts.iScience · 2026Article
- Translational reading frame predicts the pathogenicity of C-terminal frameshift deletions in MeCP2.eLife · 2026Article
- What has population genomics told us about the dynamics of selection and plant adaptation?Molecular biology and evolution · 2026Review
- Deciphering cytochrome P450 reductase role in MASLD: molecular mechanisms and pathophysiological implications.Nature reviews. Gastroenterology & hepatology · 2026Review
- Structure-conditioned self-supervised learning of residue interaction constraints in protein kinases for variant interpretation.Bioinformatics (Oxford, England) · 2026Article
- Long-Read Sequencing in CKD Diagnostics: Breaking Genomic Barriers and Expanding Global Inclusion.Kidney international reports · 2026Review
- Intragenic deletions from whole genome sequencing of 1054 suicide deaths.Research square · 2026Article
- Systematic reanalysis of next-generation sequencing data in 101 neuromuscular disorder families enhances diagnostic yield, reveals intronic variants, and identifies a novel disease gene.Journal of neurology · 2026Article
- CATVariant: a web server for integrated protein variant interpretation across sequence, structure, population, and clinical evidence.Nucleic acids research · 2026Article
- Identification of genetic variants in B cell expressed genes associated with systemic lupus erythematosus in African American females.ImmunoHorizons · 2026Article
379 more citing papers are in PubMed but not listed here.
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
10 authors at 1 institution in 2 countries.
Funding
Abstract
Reference population databases are an essential tool in variant and gene interpretation. Their use guides the identification of pathogenic variants amidst the sea of benign variation present in every human genome, and supports the discovery of new disease-gene relationships. The Genome Aggregation Database (gnomAD) is currently the largest and most widely used publicly available collection of population variation from harmonized sequencing data. The data is available through the online gnomAD browser (https://gnomad.broadinstitute.org/) that enables rapid and intuitive variant analysis. This review provides guidance on the content of the gnomAD browser, and its usage for variant and gene interpretation. We introduce key features including allele frequency, per-base expression levels, constraint scores, and variant co-occurrence, alongside guidance on how to use these in analysis, with a focus on the interpretation of candidate variants and novel genes in rare disease.
Indexed as
Identifiers
What OpenQuestion holds
Registered trials
Read under generation 80e0d062 · epoch 390. Bibliography from PubMed, PubMed Central and OpenAlex; grants from NIH RePORTER; trial links from ClinicalTrials.gov; estimates, votes and beliefs from the OpenQuestion graph.