ReviewGenome medicine2012
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress.
Review in Genome medicine, 2012. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 44 papers, 1 of them a synthesis that pooled it.
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
44 citing papers in PubMed, 1 synthesis or guideline pooled it.
- Unsolved challenges of clinical whole-exome sequencing: a systematic literature review of end-users' views.BMC medical genomics · 2016Pooled it
- Current gene panels for female infertility: gaps between evidence and clinical application.Journal of assisted reproduction and genetics · 2026Review
- Sorting out and navigating uncertainty in precision medicine.History and philosophy of the life sciences · 2026Article
- One-pot DTECT enables rapid and efficient capture of genetic signatures for precision genome editing and clinical diagnostics.Cell reports methods · 2024Article
- HAP1, a new revolutionary cell model for gene editing using CRISPR-Cas9.Frontiers in cell and developmental biology · 2023Review
- Genetics and"democracy".Italian journal of pediatrics · 2022Article
- Mechnetor: a web server for exploring protein mechanism and the functional context of genetic variants.Nucleic acids research · 2021Article
- How to study SARS-CoV-2 in soils?Environmental research · 2021Review
- SARS-CoV-2 and other pathogens could be determined in liquid samples from soils.Environmental pollution (Barking, Essex : 1987) · 2021Article
- Next-Generation Sequencing in Newborn Screening: A Review of Current State.Frontiers in genetics · 2021Review
- Technologies and Computational Analysis Strategies for CRISPR Applications.Molecular cell · 2020Review
- DNA Microsystems for Biodiagnosis.Micromachines · 2020Review
- Review
- History of DNA Helicases.Genes · 2020Review
- Development of the variant calling algorithm, ADIScan, and its use to estimate discordant sequences between monozygotic twins.Nucleic acids research · 2018Article
- PanDrugs: a novel method to prioritize anticancer drug treatments according to individual genomic data.Genome medicine · 2018Article
- VarCards: an integrated genetic and clinical database for coding variants in the human genome.Nucleic acids research · 2018Article
- MAPPIN: a method for annotating, predicting pathogenicity and mode of inheritance for nonsynonymous variants.Nucleic acids research · 2017Article
- Prevalence of Rare Genetic Variations and Their Implications in NGS-data Interpretation.Scientific reports · 2017Article
- Development of pathogenicity predictors specific for variants that do not comply with clinical guidelines for the use of computational evidence.BMC genomics · 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
2 authors.
Funding
Abstract
The pace of exome and genome sequencing is accelerating, with the identification of many new disease-causing mutations in research settings, and it is likely that whole exome or genome sequencing could have a major impact in the clinical arena in the relatively near future. However, the human genomics community is currently facing several challenges, including phenotyping, sample collection, sequencing strategies, bioinformatics analysis, biological validation of variant function, clinical interpretation and validity of variant data, and delivery of genomic information to various constituents. Here we review these challenges and summarize the bottlenecks for the clinical application of exome and genome sequencing, and we discuss ways for moving the field forward. In particular, we urge the need for clinical-grade sample collection, high-quality sequencing data acquisition, digitalized phenotyping, rigorous generation of variant calls, and comprehensive functional annotation of variants. Additionally, we suggest that a 'networking of science' model that encourages much more collaboration and online sharing of medical history, genomic data and biological knowledge, including among research participants and consumers/patients, will help establish causation and penetrance for disease causal variants and genes. As we enter this new era of genomic medicine, we envision that consumer-driven and consumer-oriented efforts will take center stage, thus allowing insights from the human genome project to translate directly back into individualized medicine.
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.