ArticleJournal of human genetics2014
A commentary on the promise of whole-exome sequencing in medical genetics.
Article in Journal of human genetics, 2014. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 10 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
10 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
- Whole-Exome Sequencing Identified a Nonsense Pathogenic Variant in the MITF Gene Associated with Non-syndromic Hearing Loss.Biochemical genetics · 2026Article
- Enhancing Variant Calling in Whole-exome Sequencing Data Using Population-matched Reference Genomes.Genomics, proteomics & bioinformatics · 2024Article
- Whole exome sequencing is an alternative method in the diagnosis of mitochondrial DNA diseases.Molecular genetics & genomic medicine · 2022Article
- Cruxome: a powerful tool for annotating, interpreting and reporting genetic variants.BMC genomics · 2021Article
- Genetic and Epigenetic Impact of Chronic Inflammation on Colon Mucosa Cells.Frontiers in genetics · 2021Article
- Article
- Deleterious genetic variants in ciliopathy genes increase risk of ritodrine-induced cardiac and pulmonary side effects.BMC medical genomics · 2018Article
- New tools and approaches to newborn screening: ready to open Pandora's box?Cold Spring Harbor molecular case studies · 2017Article
- Identification of the rs797045105 in the SERAC1 Gene by Whole-exome Sequencing in a Patient Suspicious of MEGDEL Syndrome.Basic and clinical neuroscienceArticle
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.
Funding
No grant is acknowledged in the PubMed record.
Abstract
PubMed holds no abstract for this paper.
Indexed as
Identifiers
24500682What 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.