Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers-Reference-Cited by-同舟云学术

Evaluation of a whole‐exome sequencing pipeline and benchmarking of causal germline variant prioritizers

Published:2022-09-12 Issue:12 Volume:43 Page:2010-2020
ISSN:1059-7794
Container-title:Human Mutation
language:en
Short-container-title:Human Mutation

Author:

Tosco‐Herrera Eva¹²^ORCID,Muñoz‐Barrera Adrián²³,Jáspez David³,Rubio‐Rodríguez Luis A.²³,Mendoza‐Alvarez Alejandro¹²^ORCID,Rodriguez‐Perez Hector¹²,Jou Jonathan⁴,Iñigo‐Campos Antonio³,Corrales Almudena¹⁵,Ciuffreda Laura¹,Martinez‐Bugallo Francisco⁶,Prieto‐Morin Carol⁶,García‐Olivares Víctor³,González‐Montelongo Rafaela³,Lorenzo‐Salazar Jose Miguel²³,Marcelino‐Rodriguez Itahisa¹,Flores Carlos¹³⁵⁷^ORCID

Affiliation:

1. Research Unit Hospital Universitario Nuestra Señora de Candelaria (HUNSC) Santa Cruz de Tenerife Spain

2. Escuela de Doctorado y Estudios de Posgrado de la Universidad de La Laguna (EDEPULL) Universidad de La Laguna (ULL) San Cristóbal de La Laguna Spain

3. Genomics Division Instituto Tecnológico y de Energías Renovables (ITER) Granadilla de Abona Spain

4. Department of Surgery University of Illinois College of Medicine Peoria Illinois USA

5. CIBER de Enfermedades Respiratorias Instituto de Salud Carlos III Madrid Spain

6. Clinical Analysis Service Hospital Universitario Nuestra Señora de Candelaria (HUNSC) Santa Cruz de Tenerife Spain

7. Facultad de Ciencias de la Salud Universidad Fernando Pessoa Canarias Las Palmas de Gran Canaria Spain

Funder

Agencia Canaria de Investigación, Innovación y Sociedad de la Información

Ministerio de Ciencia e Innovación

Instituto de Salud Carlos III

Publisher

Hindawi Limited

Subject

Genetics (clinical),Genetics

Link

https://onlinelibrary.wiley.com/doi/pdf/10.1002/humu.24459

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5. An Improved Phenotype-Driven Tool for Rare Mendelian Variant Prioritization: Benchmarking Exomiser on Real Patient Whole-Exome Data

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