ArticleFrontiers in genetics2013
Detection and impact of rare regulatory variants in human disease.
Article in Frontiers in genetics, 2013. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 12 papers.
What it found
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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.
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Who cites it
12 citing papers in PubMed.
- Article
- Role of non-coding variants in cardiovascular disease.Journal of cellular and molecular medicine · 2023Review
- Rare variant association testing in the non-coding genome.Human genetics · 2020Review
- Genome sequencing as a first-line genetic test in familial dilated cardiomyopathy.Genetics in medicine : official journal of the American College of Medical Genetics · 2019Article
- LINC00565 promotes proliferation and inhibits apoptosis of gastric cancer by targeting miR-665/AKT3 axis.OncoTargets and therapy · 2019Article
- VarGenius executes cohort-level DNA-seq variant calling and annotation and allows to manage the resulting data through a PostgreSQL database.BMC bioinformatics · 2018Article
- Novel pedigree analysis implicates DNA repair and chromatin remodeling in multiple myeloma risk.PLoS genetics · 2018Article
- The impact of structural variation on human gene expression.Nature genetics · 2017Article
- Non-Coding Loss-of-Function Variation in Human Genomes.Human heredity · 2016Review
- Article
- SuRFing the genomics wave: an R package for prioritising SNPs by functionality.Genome medicine · 2014Article
- A community-based resource for automatic exome variant-calling and annotation in Mendelian disorders.BMC genomics · 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
2 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Advances in genome sequencing are providing unprecedented resolution of rare and private variants. However, methods which assess the effect of these variants have relied predominantly on information within coding sequences. Assessing their impact in non-coding sequences remains a significant contemporary challenge. In this review, we highlight the role of regulatory variation as causative agents and modifiers of monogenic disorders. We further discuss how advances in functional genomics are now providing new opportunity to assess the impact of rare non-coding variants and their role in disease.
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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.