ArticleHuman molecular genetics2015
Prioritizing genes for X-linked diseases using population exome data.
Article in Human molecular genetics, 2015. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 11 papers.
What it found
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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.
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Who cites it
11 citing papers in PubMed, 17 citations in OpenAlex.
- Hemizygosity can reveal variant pathogenicity on the X-chromosome.Human genetics · 2023Article
- MetaDome: Pathogenicity analysis of genetic variants through aggregation of homologous human protein domains.Human mutation · 2019Article
- Emerging RAS superfamily conditions involving GTPase function.PLoS genetics · 2019Article
- Genomic Sequencing Expansion and Incomplete Penetrance.Pediatrics · 2019Article
- Using exome sequencing to decipher family history in a healthy individual: Comparison of pathogenic and population MTM1 variants.Molecular genetics & genomic medicine · 2018Article
- O-GlcNAc in cancer: An Oncometabolism-fueled vicious cycle.Journal of bioenergetics and biomembranes · 2018Review
- Properties of human genes guided by their enrichment in rare and common variants.Human mutation · 2018Article
- Nutrient-driven O-GlcNAc in proteostasis and neurodegeneration.Journal of neurochemistry · 2018Review
- Aggregation of population-based genetic variation over protein domain homologues and its potential use in genetic diagnostics.Human mutation · 2017Article
- Spatial Clustering of de Novo Missense Mutations Identifies Candidate Neurodevelopmental Disorder-Associated Genes.American journal of human genetics · 2017Article
- Missense-depleted regions in population exomes implicate ras superfamily nucleotide-binding protein alteration in patients with brain malformation.NPJ genomic medicine · 2016Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
3 authors at 1 institution in 1 country.
Funding
Abstract
Many new disease genes can be identified through high-throughput sequencing. Yet, variant interpretation for the large amounts of genomic data remains a challenge given variation of uncertain significance and genes that lack disease annotation. As clinically significant disease genes may be subject to negative selection, we developed a prediction method that measures paucity of non-synonymous variation in the human population to infer gene-based pathogenicity. Integrating human exome data of over 6000 individuals from the NHLBI Exome Sequencing Project, we tested the utility of the prediction method based on the ratio of non-synonymous to synonymous substitution rates (dN/dS) on X-chromosome genes. A low dN/dS ratio characterized genes associated with childhood disease and outcome. Furthermore, we identify new candidates for diseases with early mortality and demonstrate intragenic localized patterns of variants that suggest pathogenic hotspots. Our results suggest that intrahuman substitution analysis is a valuable tool to help prioritize novel disease genes in sequence interpretation.
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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.