Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.

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

8 citing papers in PubMed.

1. Long-term follow-up of children who received rapid genomic sequencing.Genetics in medicine : official journal of the American College of Medical Genetics · 2025
   Article
2. Exome and genome sequencing in a heterogeneous population of patients with rare disease: Identifying predictors of a diagnosis.Genetics in medicine : official journal of the American College of Medical Genetics · 2024
   Article
3. Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.Neurogenetics · 2024
   Article
4. Rapid genomic sequencing for genetic disease diagnosis and therapy in intensive care units: a review.NPJ genomic medicine · 2024
   Review
5. Beyond the exome: What's next in diagnostic testing for Mendelian conditions.American journal of human genetics · 2023
   Review
6. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.American journal of human genetics · 2023
   Article
7. Elusive variants in autosomal recessive disease: how can we improve timely diagnosis?European journal of human genetics : EJHG · 2023
   Article
8. Epigenetics of asthma-the field continues to evolve.Annals of translational medicine · 2022
   Article

Corrections and comments

• Erratum for
  Cost-effectiveness of exome and genome sequencing for children with rare and undiagnosed conditions.2022

Authors and funding

11 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.