ReviewHuman molecular genetics2012
Inferring causality and functional significance of human coding DNA variants.
Review in Human molecular 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.
- Intragenic compensation through the lens of deep mutational scanning.Biophysical reviews · 2022Review
- A 1-bp deletion in bovine QRICH2 causes low sperm count and immotile sperm with multiple morphological abnormalities.Genetics, selection, evolution : GSE · 2022Article
- Prevalence of Fabry disease in male dialysis patients: Argentinean screening study.JIMD reports · 2019Article
- Structural and Computational Characterization of Disease-Related Mutations Involved in Protein-Protein Interfaces.International journal of molecular sciences · 2019Article
- Functional Assays Are Essential for Interpretation of Missense Variants Associated with Variable Expressivity.American journal of human genetics · 2018Article
- Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.BMC genomics · 2017Article
- New insights into the generation and role of de novo mutations in health and disease.Genome biology · 2016Review
- Establishing the precise evolutionary history of a gene improves prediction of disease-causing missense mutations.Genetics in medicine : official journal of the American College of Medical Genetics · 2016Article
- StructMAn: annotation of single-nucleotide polymorphisms in the structural context.Nucleic acids research · 2016Article
- Lessons learned from gene identification studies in Mendelian epilepsy disorders.European journal of human genetics : EJHG · 2016Review
- Rare Variants Association Analysis in Large-Scale Sequencing Studies at the Single Locus Level.PLoS computational biology · 2016Article
- Discovery of rare variants for complex phenotypes.Human genetics · 2016Review
- Coming of age: ten years of next-generation sequencing technologies.Nature reviews. Genetics · 2016Review
- A Molecular Evolutionary Reference for the Human Variome.Molecular biology and evolution · 2016Article
- Implementation of Functional Genomics for Bench-to-Bedside Transition in Osteoarthritis.Current rheumatology reports · 2015Review
- Article
- Evolutionary Diagnosis of non-synonymous variants involved in differential drug response.BMC medical genomics · 2015Article
- GNAS mutations in Pseudohypoparathyroidism type 1a and related disorders.Human mutation · 2015Review
- Identification of rare causal variants in sequence-based studies: methods and applications to VPS13B, a gene involved in Cohen syndrome and autism.PLoS genetics · 2014Article
- The implications of familial incidental findings from exome sequencing: the NIH Undiagnosed Diseases Program experience.Genetics in medicine : official journal of the American College of Medical Genetics · 2014Article
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
Abstract
Sequencing technology enables the complete characterization of human genetic variation. Statistical genetics studies identify numerous loci linked to or associated with phenotypes of direct medical interest. The major remaining challenge is to characterize functionally significant alleles that are causally implicated in the genetic basis of human traits. Here, I review three sources of evidence for the functional significance of human DNA variants in protein-coding genes. These include (i) statistical genetics considerations such as co-segregation with the phenotype, allele frequency in unaffected controls and recurrence; (ii) in vitro functional assays and model organism experiments; and (iii) computational methods for predicting the functional effect of amino acid substitutions. In spite of many successes of recent studies, functional characterization of human allelic variants remains problematic.
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.