ArticleProceedings of the National Academy of Sciences of the United States of America2015
Can the impact of human genetic variations be predicted?
Article in Proceedings of the National Academy of Sciences of the United States of America, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 18 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
18 citing papers in PubMed.
- Whole-exome sequencing to analyze population structure, parental inbreeding, and familial linkage.Proceedings of the National Academy of Sciences of the United States of America · 2016Trial
- Parallel functional annotation of cancer-associated missense mutations in histone methyltransferases.Scientific reports · 2022Article
- Convergent Alterations of a Protein Hub Produce Divergent Effects within a Binding Site.ACS chemical biology · 2022Article
- Structural bioinformatics enhances the interpretation of somatic mutations in KDM6A found in human cancers.Computational and structural biotechnology journal · 2022Article
- Mammalian SWI/SNF Complex Genomic Alterations and Immune Checkpoint Blockade in Solid Tumors.Cancer immunology research · 2020Article
- Identification of pathogenic variant enriched regions across genes and gene families.Genome research · 2020Article
- A purely quantitative form of partial recessive IFN-γR2 deficiency caused by mutations of the initiation or second codon.Human molecular genetics · 2018Article
- Myofibrillar myopathy in the genomic context.Journal of applied genetics · 2018Review
- Human genetics of infectious diseases: Unique insights into immunological redundancy.Seminars in immunology · 2018Review
- Re-evaluating pathogenicity of variants associated with the long QT syndrome.Journal of cardiovascular electrophysiology · 2018Article
- MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.Nucleic acids research · 2017Article
- Alanine-scanning mutagenesis of human signal transducer and activator of transcription 1 to estimate loss- or gain-of-function variants.The Journal of allergy and clinical immunology · 2017Article
- Predicting phenotype from genotype: Improving accuracy through more robust experimental and computational modeling.Human mutation · 2017Article
- Article
- Global inference of disease-causing single nucleotide variants from exome sequencing data.BMC bioinformatics · 2016Article
- Exome and genome sequencing for inborn errors of immunity.The Journal of allergy and clinical immunology · 2016Review
- Comparison of pathogenicity prediction tools on missense variants in RYR1 and CACNA1S associated with malignant hyperthermia.British journal of anaesthesia · 2016Article
- The human gene damage index as a gene-level approach to prioritizing exome variants.Proceedings of the National Academy of Sciences of the United States of America · 2015Article
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Authors and funding
2 authors.
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Abstract
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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.