ArticleGenome medicine2019
Keeping up with the genomes: scaling genomic variant interpretation.
Article in Genome medicine, 2019. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 15 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
15 citing papers in PubMed.
- Compressing the collective knowledge of ESM into a single protein language model.Nature methods · 2026Article
- Uncovering differential tolerance to deletions versus substitutions with a protein language model.Cell systems · 2025Article
- Increasing pathogenic germline variant diagnosis rates in precision medicine: current best practices and future opportunities.Human genomics · 2025Review
- MOLGENIS VIP: an end-to-end DNA variant interpretation pipeline for research and diagnostics configurable to support rapid implementation of new methods.NAR genomics and bioinformatics · 2025Article
- Review
- Whole-Genome Sequencing Can Identify Clinically Relevant Variants from a Single Sub-Punch of a Dried Blood Spot Specimen.International journal of neonatal screening · 2023Article
- Genome-wide prediction of disease variant effects with a deep protein language model.Nature genetics · 2023Article
- Article
- Molecular and Functional Characterisation of a Novel Intragenic 12q24.21 Deletion Resulting inMedicina (Kaunas, Lithuania) · 2023Article
- A multi-layered computational structural genomics approach enhances domain-specific interpretation of Kleefstra syndrome variants in EHMT1.Computational and structural biotechnology journal · 2023Article
- Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.Nature communications · 2022Article
- Massively parallel phenotyping of coding variants in cancer with Perturb-seq.Nature biotechnology · 2022Article
- LocalVar: a local variant collection manager to asynchronously detect synonyms, HGVS expression changes, and variant interpretation changes from ClinVar.AMIA ... Annual Symposium proceedings. AMIA Symposium · 2022Article
- Discovery of genomic variation across a generation.Human molecular genetics · 2021Article
- Linking common human diseases to their phenotypes; development of a resource for human phenomics.Journal of biomedical semantics · 2021Article
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
PubMed holds no abstract for this paper.
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.