ReviewBriefings in bioinformatics2012
Bioinformatics for personal genome interpretation.
Review in Briefings in bioinformatics, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 43 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
43 citing papers in PubMed.
- Prediction of Deleterious Single Amino Acid Polymorphisms with a Consensus Holdout Sampler.Current genomics · 2024Article
- PhD-SNPg: updating a webserver and lightweight tool for scoring nucleotide variants.Nucleic acids research · 2023Article
- Evaluating the relevance of sequence conservation in the prediction of pathogenic missense variants.Human genetics · 2022Article
- Identification of driver genes based on gene mutational effects and network centrality.BMC bioinformatics · 2021Article
- MutTMPredictor: Robust and accurate cascade XGBoost classifier for prediction of mutations in transmembrane proteins.Computational and structural biotechnology journal · 2021Article
- Limitations and challenges in protein stability prediction upon genome variations: towards future applications in precision medicine.Computational and structural biotechnology journal · 2020Review
- Assessing the performance of in silico methods for predicting the pathogenicity of variants in the gene CHEK2, among Hispanic females with breast cancer.Human mutation · 2019Article
- VarI-COSI 2018: a forum for research advances in variant interpretation and diagnostics.BMC genomics · 2019Article
- Fido-SNP: the first webserver for scoring the impact of single nucleotide variants in the dog genome.Nucleic acids research · 2019Article
- Integrating molecular networks with genetic variant interpretation for precision medicine.Wiley interdisciplinary reviews. Systems biology and medicine · 2019Review
- Article
- Blind prediction of deleterious amino acid variations with SNPs&GO.Human mutation · 2017Article
- PhD-SNPg: a webserver and lightweight tool for scoring single nucleotide variants.Nucleic acids research · 2017Article
- Protein function in precision medicine: deep understanding with machine learning.FEBS letters · 2016Review
- VarI-SIG 2015: methods for personalized medicine - the role of variant interpretation in research and diagnostics.BMC genomics · 2016Article
- Review
- PredictSNP2: A Unified Platform for Accurately Evaluating SNP Effects by Exploiting the Different Characteristics of Variants in Distinct Genomic Regions.PLoS computational biology · 2016Article
- Article
- Assessing the Pathogenicity of Insertion and Deletion Variants with the Variant Effect Scoring Tool (VEST-Indel).Human mutation · 2016Article
- From Molecules to Patients: The Clinical Applications of Translational Bioinformatics.Yearbook of medical informatics · 2015Article
Corrections and comments
PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.
Authors and funding
4 authors.
Funding
Abstract
An international consortium released the first draft sequence of the human genome 10 years ago. Although the analysis of this data has suggested the genetic underpinnings of many diseases, we have not yet been able to fully quantify the relationship between genotype and phenotype. Thus, a major current effort of the scientific community focuses on evaluating individual predispositions to specific phenotypic traits given their genetic backgrounds. Many resources aim to identify and annotate the specific genes responsible for the observed phenotypes. Some of these use intra-species genetic variability as a means for better understanding this relationship. In addition, several online resources are now dedicated to collecting single nucleotide variants and other types of variants, and annotating their functional effects and associations with phenotypic traits. This information has enabled researchers to develop bioinformatics tools to analyze the rapidly increasing amount of newly extracted variation data and to predict the effect of uncharacterized variants. In this work, we review the most important developments in the field--the databases and bioinformatics tools that will be of utmost importance in our concerted effort to interpret the human variome.
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.