Clinical Genetics Assessment Triangle (CGAT): A simple tool to identify patients with genetic conditions

Author:

Ferri-Rufete David,López-González Aitor,Casas-Alba DídacORCID,Cuadras Daniel,Palau Francesc,Martínez-Monseny Antonio

Publisher

Elsevier BV

Subject

Genetics (clinical),Genetics,General Medicine

Reference34 articles.

1. 100,000 genomes pilot on rare-disease diagnosis in health care - preliminary report;Smedley;N. Engl. J. Med.,2021

2. Ending a diagnostic odyssey: family education, counseling, and response to eventual diagnosis;Basel;Pediatr. Clin.,2017

3. Successful application of genome sequencing in a diagnostic setting: 1007 index cases from a clinically heterogeneous cohort;Bertoli-Avella;Eur. J. Hum. Genet.,2021

4. Case for genome sequencing in infants and children with rare, undiagnosed or genetic diseases;Bick;J. Med. Genet.,2019

5. Limitations of exome sequencing in detecting rare and undiagnosed diseases;Burdick;Am. J. Med. Genet.,2020

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