An expanded phenotype centric benchmark of variant prioritisation tools.

Anderson, Denise; Lassmann, Timo

Anderson, Denise; Lassmann, Timo.

Affiliation

Anderson D; Telethon Kids Institute Precision Health Computational Biology, The University of Western Australia, Subiaco, Western Australia, Australia.
Lassmann T; Telethon Kids Institute Precision Health Computational Biology, The University of Western Australia, Subiaco, Western Australia, Australia.

Hum Mutat ; 43(5): 539-546, 2022 05.

Article in En | MEDLINE | ID: mdl-35224813

Subject(s)

Benchmarking; Computational Biology; High-Throughput Nucleotide Sequencing; Humans; Mutation, Missense; Phenotype

Key words

dbNSFP; disease; human phenotype ontology; phenotype; variant prioritization

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Full text: 1 Database: MEDLINE Main subject: Computational Biology / Benchmarking Limits: Humans Language: En Year: 2022 Type: Article

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Full text: 1 Database: MEDLINE Main subject: Computational Biology / Benchmarking Limits: Humans Language: En Year: 2022 Type: Article