ReviewTrends in molecular medicine2016
Family-Specific Variants and the Limits of Human Genetics.
Review in Trends in molecular medicine, 2016. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 31 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
31 citing papers in PubMed, 48 citations in OpenAlex.
- AlphaGenome Atlas:medRxiv : the preprint server for health sciences · 2026Article
- Systematic and proactive evaluation of AIRE missense variant effects.American journal of human genetics · 2026Article
- Creating an atlas of variant effects to resolve variants of uncertain significance and guide cardiovascular medicine.Nature reviews. Cardiology · 2026Review
- A scalable approach to resolving variants of uncertain significance.bioRxiv : the preprint server for biology · 2026Article
- The functional landscape of coding variation in the familial hypercholesterolemia geneScience (New York, N.Y.) · 2026Article
- Proteome-wide model for human disease genetics.Nature genetics · 2025Article
- Systematic and proactive evaluation of AIRE missense variant effects.bioRxiv : the preprint server for biology · 2025Article
- Mendelian causes of early-onset emphysema: a review of the current literature.European respiratory review : an official journal of the European Respiratory Society · 2025Review
- Comprehensively Testing the Function of Missense Variation in thebioRxiv : the preprint server for biology · 2025Article
- Characterizing trends in clinical genetic testing: A single-center analysis of EHR data from 1.8 million patients over two decades.American journal of human genetics · 2025Article
- Framework for standardized genetic testing recommendations for chronic kidney disease in Ontario.Genetics in medicine open · 2025Article
- Article
- A content analysis of parents' reflections on pathogenic and uncertain pediatric oncology germline sequencing results.Familial cancer · 2024Article
- Multiplexed Functional Assessments ofCirculation. Genomic and precision medicine · 2024Article
- A SIMPLE AND FLEXIBLE TEST OF SAMPLE EXCHANGEABILITY WITH APPLICATIONS TO STATISTICAL GENOMICS.The annals of applied statistics · 2024Article
- How human genetic context can inform pathogenicity classification: FGFR1 variation in idiopathic hypogonadotropic hypogonadism.Human genetics · 2023Article
- Exploring Stakeholders' Perspectives on Implementing Universal Germline Testing for Colorectal Cancer: Findings From a Clinical Practice Survey.JCO precision oncology · 2023Article
- An Atlas of Variant Effects to understand the genome at nucleotide resolution.Genome biology · 2023Article
- Predictors of the utility of clinical exome sequencing as a first-tier genetic test in patients with Mendelian phenotypes: results from a referral center study on 603 consecutive cases.Human genomics · 2023Article
- Protein domains provide a new layer of information for classifying human variations in rare diseases.Frontiers in bioinformatics · 2023Article
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 at 2 institutions in 1 country.
Funding
Abstract
Every single-nucleotide change compatible with life is present in the human population today. Understanding these rare human variants defines an extraordinary challenge for genetics and medicine. The new clinical practice of sequencing many genes for hereditary cancer risk has illustrated the utility of clinical next-generation sequencing in adults, identifying more medically actionable variants than single-gene testing. However, it has also revealed a linear relationship between the length of DNA evaluated and the number of rare 'variants of uncertain significance' reported. We propose that careful approaches to phenotype-genotype inference, distinguishing between diagnostic and screening intent, in conjunction with expanded use of family-scale genetics studies as a source of information on family-specific variants, will reduce variants of uncertain significance reported to patients.
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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.