Clinical exome sequencing: the new standard in genetic diagnosis.

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. Improving recommendations for genomic medicine: building an evolutionary process from clinical practice advisory documents to guidelines.Genetics in medicine : official journal of the American College of Medical Genetics · 2019
   Review
2. Efficacy of Exome-Targeted Capture Sequencing to Detect Mutations in Known Cerebellar Ataxia Genes.JAMA neurology · 2018
   Article
3. The role of gene variants in the pathogenesis of neurodegenerative disorders as revealed by next generation sequencing studies: a review.Translational neurodegeneration · 2017
   Review
4. Clinical exome sequencing in neurologic disease.Neurology. Clinical practice · 2016
   Review
5. Whole genome sequencing in cats, identifies new models for blindness in AIPL1 and somite segmentation in HES7.BMC genomics · 2016
   Article
6. Clinical exome sequencing in neurogenetic and neuropsychiatric disorders.Annals of the New York Academy of Sciences · 2016
   Review
7. Identification of a Novel De Novo Variant in the PAX3 Gene in Waardenburg Syndrome by Diagnostic Exome Sequencing: The First Molecular Diagnosis in Korea.Annals of laboratory medicine · 2015
   Article
8. A novel CRX mutation by whole-exome sequencing in an autosomal dominant cone-rod dystrophy pedigree.International journal of ophthalmology · 2015
   Article

Corrections and comments

• Comment on
  Exome sequencing in the clinical diagnosis of sporadic or familial cerebellar ataxia.2014

Authors and funding

2 authors.

Funding

No grant is acknowledged in the PubMed record.

Abstract

PubMed holds no abstract for this paper.

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