ReviewMethods in molecular biology (Clifton, N.J.)2010
Bioinformatic tools for identifying disease gene and SNP candidates.
Review in Methods in molecular biology (Clifton, N.J.), 2010. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 62 citations in OpenAlex.
- Genetic findings in ten Ecuadorian patients with suspected Wilson's disease.Human genomics · 2026Article
- A high-performance computational workflow to accelerate GATK SNP detection across a 25-genome dataset.BMC biology · 2024Article
- In silico SNP prediction of selected protein orthologues in insect models for Alzheimer's, Parkinson's, and Huntington's diseases.Scientific reports · 2023Article
- Discovering Deleterious Single Nucleotide Polymorphisms of Human AKT1 Oncogene: An In Silico Study.Life (Basel, Switzerland) · 2023Article
- A genome-wide and candidate gene association study of preterm birth in Korean pregnant women.PloS one · 2023Article
- Article
- Comparative analysis of web-based programs for single amino acid substitutions in proteins.PloS one · 2022Article
- PRKCE non-coding variants influence on transcription as well as translation of its gene.RNA biology · 2022Article
- Heterogeneous Distribution of Genetic Mutations in Myosin Binding Protein-C Paralogs.Frontiers in genetics · 2022Article
- Refinement of coding SNPs in the human aryl hydrocarbon receptor gene using ISNPranker: An integrative-SNP ranking web-tool.Computational biology and chemistry · 2021Article
- A novel homozygous frameshift variant in the ABCC2-gene in Dubin-Johnson syndrome may predispose to chronic liver disease.Indian journal of gastroenterology : official journal of the Indian Society of Gastroenterology · 2021Article
- An Automated Functional Annotation Pipeline That Rapidly Prioritizes Clinically Relevant Genes for Autism Spectrum Disorder.International journal of molecular sciences · 2020Article
- Article
- Prediction and Structural Comparison of Deleterious Coding Nonsynonymous Single Nucleotide Polymorphisms (nsSNPs) in Human LEP Gene Associated with Obesity.BioMed research international · 2019Article
- Molecular Modelling and Dynamics Study of nsSNP in STXBP1 Gene in Early Infantile Epileptic Encephalopathy Disease.BioMed research international · 2019Article
- Single-Nucleotide Polymorphisms (SNP) Mining and Their Effect on the Tridimensional Protein Structure Prediction in a Set of Immunity-Related Expressed Sequence Tags (EST) in Atlantic Salmon (Frontiers in genetics · 2019Article
- atSNPInfrastructure, a case study for searching billions of records while providing significant cost savings over cloud providers.IEEE International Symposium on Parallel & Distributed Processing, Workshops and Phd Forum : [proceedings]. IEEE International Symposium on Parallel & Distributed Processing, Workshops and Phd Forum · 2018Article
- Prevalence of the single-nucleotide polymorphism rs11554137 (IDH1Scientific reports · 2018Article
- Prediction of dyslipidemia using gene mutations, family history of diseases and anthropometric indicators in children and adolescents: The CASPIAN-III study.Computational and structural biotechnology journal · 2018Article
- Evaluation of peptide designing strategy against subunit reassociation in mucin 1: A steered molecular dynamics approach.PloS one · 2017Article
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
As databases of genome data continue to grow, our understanding of the functional elements of the genome grows as well. Many genetic changes in the genome have now been discovered and characterized, including both disease-causing mutations and neutral polymorphisms. In addition to experimental approaches to characterize specific variants, over the past decade, there has been intense bioinformatic research to understand the molecular effects of these genetic changes. In addition to genomic experimental assays, the bioinformatic efforts have focused on two general areas. First, researchers have annotated genetic variation data with molecular features that are likely to affect function. Second, statistical methods have been developed to predict mutations that are likely to have a molecular effect. In this protocol manuscript, methods for understanding the molecular functions of single nucleotide polymorphisms (SNPs) and mutations are reviewed and described. The intent of this chapter is to provide an introduction to the online tools that are both easy to use and useful.
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.