Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes-Reference-Cited by-同舟云学术

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Consecutive medical exome analysis at a tertiary center: Diagnostic and health‐economic outcomes

Published:2020-05-05 Issue:7 Volume:182 Page:1601-1607
ISSN:1552-4825
Container-title:American Journal of Medical Genetics Part A
language:en
Short-container-title:Am J Med Genet

Author:

Kosaki Rika¹^ORCID,Kubota Masaya²,Uehara Tomoko³^ORCID,Suzuki Hisato³^ORCID,Takenouchi Toshiki⁴^ORCID,Kosaki Kenjiro³^ORCID

Affiliation:

1. Division of Medical Genetics National Center for Child Health and Development Tokyo Japan

2. Department of Neurology National Center for Child Health and Development Tokyo Japan

3. Center for Medical Genetics Keio University School of Medicine Tokyo Japan

4. Department of Pediatrics Keio University School of Medicine Tokyo Japan

Funder

Japan Agency for Medical Research and Development

National Center for Child Health and Development

Publisher

Wiley

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/ajmg.a.61589

Reference34 articles.

1. The SickKids Genome Clinic: developing and evaluating a pediatric model for individualized genomic medicine

2. The death of cost-minimization analysis?

3. Cherot E. Keren B. Dubourg C. Carre W. Fradin M. Lavillaureix A. …Mignot C.(2018).Using medical exome sequencing to identify the causes of neurodevelopmental disorders: Experience of 2 clinical units and 216 patients 93(3) 567–576.

4. Predicting the Functional Effect of Amino Acid Substitutions and Indels

5. A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff

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