ArticleNature genetics2024
Inferring compound heterozygosity from large-scale exome sequencing data.
Article in Nature genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 27 papers.
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.
Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.
Who cites it
27 citing papers in PubMed.
- Allele frequencies at recessive disease genes are mainly determined by pleiotropic effects in heterozygotes.Genetics · 2026Article
- Triple A syndrome with a new mutation pattern, first documented case in Austria: a case report with literature review.Orphanet journal of rare diseases · 2026Review
- Near-perfect genome sequencing in medical genetics.Nature genetics · 2026Review
- Distinct genetic variants from the whole-exome sequencing of syndromic anorectal malformations: A cross-sectional study.iScience · 2026Article
- A Benchmark of Modern Statistical Phasing Methods.bioRxiv : the preprint server for biology · 2026Article
- Haplotype-Resolved Genome Assemblies for Norwegian Red Cattle.Animal genetics · 2026Article
- Identification of de novo variants from parent-proband duos via long-read sequencing.American journal of human genetics · 2026Article
- Genetic contribution to severe COVID-19 in adults under 60 years without major comorbidities in the German National Pandemic Cohort Network (NAPKON).Human genomics · 2026Article
- Allele Frequencies at Recessive Disease Genes are Mainly Determined by Pleiotropic Effects in Heterozygotes.bioRxiv : the preprint server for biology · 2025Article
- Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.Human genomics · 2025Article
- Complete loss of SLC30A8 in humans improves glucose metabolism and beta cell function.Diabetologia · 2025Article
- Long-range PCR and Nanopore sequencing for localisation and phasing variants: an end-to-end clinical application workflow.BMC medical genomics · 2025Article
- A scalable approach for genomic-first rare disorder detection in a healthcare-based population.American journal of human genetics · 2025Article
- GREGoR: accelerating genomics for rare diseases.Nature · 2025Article
- Phasing millions of samples achieves near perfect accuracy, enabling parent-of-origin analyses.HGG advances · 2025Article
- Assessment of the variant prioritization strategy for genomic newborn screening in the Generation Study.Genetics in medicine : official journal of the American College of Medical Genetics · 2025Article
- Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.Journal of Korean medical science · 2025Article
- A T2T-CHM13 recombination map and globally diverse haplotype reference panel improves phasing and imputation.bioRxiv : the preprint server for biology · 2025Article
- CFTR haplotype phasing using long-read genome sequencing from ultralow input DNA.Genetics in medicine open · 2025Article
- GeniePool 2.0: advancing variant analysis through CHM13-T2T, AlphaMissense, gnomAD V4 integration, and variant co-occurrence queries.Database : the journal of biological databases and curation · 2024Article
Corrections and comments
- Update of
Authors and funding
20 authors.
Funding
Abstract
Recessive diseases arise when both copies of a gene are impacted by a damaging genetic variant. When a patient carries two potentially causal variants in a gene, accurate diagnosis requires determining that these variants occur on different copies of the chromosome (that is, are in trans) rather than on the same copy (that is, in cis). However, current approaches for determining phase, beyond parental testing, are limited in clinical settings. Here we developed a strategy for inferring phase for rare variant pairs within genes, leveraging genotypes observed in the Genome Aggregation Database (v2, n = 125,748 exomes). Our approach estimates phase with 96% accuracy, both in trio data and in patients with Mendelian conditions and presumed causal compound heterozygous variants. We provide a public resource of phasing estimates for coding variants and counts per gene of rare variants in trans that can aid interpretation of rare co-occurring variants in the context of recessive 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.