ReviewGenomics2011
Annotating individual human genomes.
Review in Genomics, 2011. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 14 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
14 citing papers in PubMed.
- Interrogating the Human Diplome: Computational Methods, Emerging Applications, and Challenges.Methods in molecular biology (Clifton, N.J.) · 2023Article
- Whole genome sequencing reveals population diversity and variation in HIV-1 specific host genes.Frontiers in genetics · 2023Article
- Leveraging genome characteristics to improve gene discovery for putamen subcortical brain structure.Scientific reports · 2017Article
- Integrated Genomic Medicine: A Paradigm for Rare Diseases and Beyond.Advances in genetics · 2017Review
- Case-only exome sequencing and complex disease susceptibility gene discovery: study design considerations.Journal of medical genetics · 2015Review
- Covariate-modulated local false discovery rate for genome-wide association studies.Bioinformatics (Oxford, England) · 2014Article
- Intentions to receive individual results from whole-genome sequencing among participants in the ClinSeq study.European journal of human genetics : EJHG · 2013Article
- Confluence of genes, environment, development, and behavior in a post Genome-Wide Association Study world.Development and psychopathology · 2012Review
- Heuristic methods for finding pathogenic variants in gene coding sequences.Journal of the American Heart Association · 2012Review
- Next generation sequence analysis and computational genomics using graphical pipeline workflows.Genes · 2012Article
- Polygenic effects of common single-nucleotide polymorphisms on life span: when association meets causality.Rejuvenation research · 2012Article
- Impact of Next-Generation Sequencing (NGS) technology on cardiovascular disease research.Cardiovascular diagnosis and therapy · 2012Review
- Clinical implications of human population differences in genome-wide rates of functional genotypes.Frontiers in genetics · 2012Article
- Whole genome sequences of a male and female supercentenarian, ages greater than 114 years.Frontiers in genetics · 2011Article
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
Advances in DNA sequencing technologies have made it possible to rapidly, accurately and affordably sequence entire individual human genomes. As impressive as this ability seems, however, it will not likely amount to much if one cannot extract meaningful information from individual sequence data. Annotating variations within individual genomes and providing information about their biological or phenotypic impact will thus be crucially important in moving individual sequencing projects forward, especially in the context of the clinical use of sequence information. In this paper we consider the various ways in which one might annotate individual sequence variations and point out limitations in the available methods for doing so. It is arguable that, in the foreseeable future, DNA sequencing of individual genomes will become routine for clinical, research, forensic, and personal purposes. We therefore also consider directions and areas for further research in annotating genomic variants.
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.