ArticleNature genetics2012
Digenic inheritance and Mendelian disease.
Article in Nature genetics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 30 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
30 citing papers in PubMed.
- Genome-wide analysis of FSHD cell lines using Nanopore sequencing reveals allele-specific differences at DUX4 target genes and complex repeats.bioRxiv : the preprint server for biology · 2025Article
- Benchmark of computational methods to detect digenism in sequencing data.European journal of human genetics : EJHG · 2025Review
- Parsing the spectrum of allelic architectures in diabetes.Nature genetics · 2024Article
- The simplest explanation does not have to be preferred: co-occurrence of pathogenic variants in cancer-predisposing genes.European journal of human genetics : EJHG · 2022Article
- Identifying digenic disease genes via machine learning in the Undiagnosed Diseases Network.American journal of human genetics · 2021Article
- Variant filtering, digenic variants, and other challenges in clinical sequencing: a lesson from fibrillinopathies.Clinical genetics · 2020Article
- Digenic inheritance of human primary microcephaly delineates centrosomal and non-centrosomal pathways.Human mutation · 2020Article
- Genome sequencing and implications for rare disorders.Orphanet journal of rare diseases · 2019Review
- Insights into genetics, human biology and disease gleaned from family based genomic studies.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Review
- Article
- The classification, genetic diagnosis and modelling of monogenic autoinflammatory disorders.Clinical science (London, England : 1979) · 2018Review
- Early-onset epileptic encephalopathy and severe developmental delay in an association with de novo double mutations inEpilepsia open · 2018Article
- PIEZO1-R1864H rare variant accounts for a genetic phenotype-modifier role in dehydrated hereditary stomatocytosis.Haematologica · 2018Article
- Understanding mutational effects in digenic diseases.Nucleic acids research · 2017Article
- GATA1 erythroid-specific regulation of SEC23B expression and its implication in the pathogenesis of congenital dyserythropoietic anemia type II.Haematologica · 2017Article
- A commentary on ANKRD11 variants cause variable clinical features associated with KBG syndrome and Coffin-Siris-like syndrome.Journal of human genetics · 2017Article
- Genetic advances in craniosynostosis.American journal of medical genetics. Part A · 2017Review
- Genetic study of congenital bile-duct dilatation identifies de novo and inherited variants in functionally related genes.BMC medical genomics · 2016Article
- Article
- Clinical genomics: from a truly personal genome viewpoint.Human genetics · 2016Review
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
1 author.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Powerful genomic technologies, such as exome sequencing, are providing new insights into the genetics underlying Mendelian traits. A new study identifies a role for digenic inheritance and an epigenetic modifier in facioscapulohumeral muscular dystrophy type 2.
Indexed as
Identifiers
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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.