Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases-Reference-Cited by-同舟云学术

Exome sequencing and targeted gene panels: a simulated comparison of diagnostic yield using data from 158 patients with rare diseases

Published:2021 Issue:4 Volume:44 Page:
ISSN:1678-4685
Container-title:Genetics and Molecular Biology
language:
Short-container-title:Genet. Mol. Biol.

Author:

Quaio Caio Robledo D’Angioli Costa¹^ORCID,Obando María José Rivadeneira²,Perazzio Sandro Felix³,Dutra Aurelio Pimenta⁴,Chung Christine Hsiaoyun⁴,Moreira Caroline Monaco⁴,Novo Filho Gil Monteiro⁴,Sacramento-Bobotis Patricia Rossi⁴,Penna Michele Groenner⁴,Souza Rafaela Rogerio Floriano de⁴,Cintra Vivian Pedigone⁴,Carnavalli Juliana Emilia Prior⁴,Silva Rafael Alves da³,Santos Monize Nakamoto Provisor⁴,Paixão Daniele⁴,Baratela Wagner Antonio da Rosa⁴,Olivati Caroline⁴,Spolador Gustavo Marquezani⁵,Pintao Maria Carolina⁴,Fornari Alexandre Ricardo dos Santos⁴,Burger Matheus⁴,Ramalho Rodrigo Fernandes⁴,Pereira Otavio Jose Eulalio⁴,Ferreira Elisa Napolitano e⁴,Mitne-Neto Miguel⁴,Kim Chong Ae²

Affiliation:

1. Universidade de São Paulo, Brazil; Fleury Medicina e Saúde, Brazil; Hospital Israelita Albert Einstein, Brazil

2. Universidade de São Paulo, Brazil

3. Fleury Medicina e Saúde, Brazil; Universidade Federal de São Paulo, Brazil

4. Fleury Medicina e Saúde, Brazil

5. Universidade de São Paulo, Brazil; Fleury Medicina e Saúde, Brazil

Publisher

FapUNIFESP (SciELO)

Subject

Genetics,Molecular Biology

Reference18 articles.

1. Whole-genome sequencing offers additional but limited clinical utility compared with reanalysis of whole-exome sequencing;Alfares A;Genet Med,2018