Evaluation of exome filtering techniques for the analysis of clinically relevant genes.
Hum Mutat
; 39(2): 197-201, 2018 02.
Article
em En
| MEDLINE
| ID: mdl-29193559
ABSTRACT
A significant challenge facing clinical translation of exome sequencing is meaningful and efficient variant interpretation. Each exome contains â¼500 rare coding variants; laboratories must systematically and efficiently identify which variant(s) contribute to the patient's phenotype. In silico filtering is an approach that reduces analysis time while decreasing the chances of incidental findings. We retrospectively assessed 55 solved exomes using available datasets as in silico filters Online Mendelian Inheritance in Man (OMIM), Orphanet, Human Phenotype Ontology (HPO), and Radboudumc University Medical Center curated panels. We found that personalized panels produced using HPO terms for each patient had the highest success rate (100%), while producing considerably less variants to assess. HPO panels also captured multiple diagnoses in the same individual. We conclude that custom HPO-derived panels are an efficient and effective way to identify clinically relevant exome variants.
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Texto completo:
1
Base de dados:
MEDLINE
Assunto principal:
Exoma
Tipo de estudo:
Observational_studies
/
Prognostic_studies
Limite:
Humans
Idioma:
En
Ano de publicação:
2018
Tipo de documento:
Article