ArticleJournal of personalized medicine2020
A Data-Driven Approach to Carrier Screening for Common Recessive Diseases.
Article in Journal of personalized medicine, 2020. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 6 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
6 citing papers in PubMed.
- National genomic projects in Asia and Africa: a review.Human genomics · 2026Review
- Carrier screening for present disease prevalence and recessive genetic disorder in Taiwanese population.Journal of human genetics · 2024Article
- L138ins Variant of theGenes · 2023Article
- Identification of Pathogenic Variant Burden and Selection of Optimal Diagnostic Method Is a Way to Improve Carrier Screening for Autosomal Recessive Diseases.Journal of personalized medicine · 2022Article
- Molecular classification of blood and bleeding disorder genes.NPJ genomic medicine · 2021Article
- Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.Frontiers in genetics · 2021Article
Corrections and comments
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Authors and funding
15 authors.
Funding
No grant is acknowledged in the PubMed record.
Abstract
Genetic screening is an advanced tool for reducing recessive disease burden. Nowadays, it is still unclear as to the number of genes or their variants that are necessary for effective screening. This paper describes the development of a carrier screening custom panel for cystic fibrosis, phenylketonuria, alpha-1 antitrypsin deficiency, and sensorineural hearing loss consisting of 116 variants in the
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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.