VPMBench: a test bench for variant prioritization methods
Abstract Background Clinical diagnostics of whole-exome and whole-genome sequencing data requires geneticists to consider thousands of genetic variants for each patient. Various variant prioritization methods have been developed over the last years to aid clinicians in identifying variants that are...
Enregistré dans:
Auteurs principaux: | Andreas Ruscheinski, Anna Lena Reimler, Roland Ewald, Adelinde M. Uhrmacher |
---|---|
Format: | article |
Langue: | EN |
Publié: |
BMC
2021
|
Sujets: | |
Accès en ligne: | https://doaj.org/article/5dce2ef8cf3d43689c1b771f49ae7724 |
Tags: |
Ajouter un tag
Pas de tags, Soyez le premier à ajouter un tag!
|
Documents similaires
-
Harnessing electronic health records to study emerging environmental disasters: a proof of concept with perfluoroalkyl substances (PFAS)
par: Mary Regina Boland, et autres
Publié: (2021) -
Shedding light on biochemical features and potential immunogenic epitopes of Neospora caninum SAG1: In silico study
par: Morteza Shams, et autres
Publié: (2021) -
Ensemble learning for the early prediction of neonatal jaundice with genetic features
par: Haowen Deng, et autres
Publié: (2021) -
Natural language word embeddings as a glimpse into healthcare language and associated mortality surrounding end of life
par: Wei Gao, et autres
Publié: (2021) -
Development features and study characteristics of mobile health apps in the management of chronic conditions: a systematic review of randomised trials
par: Maria Cucciniello, et autres
Publié: (2021)