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Yongfen Lyu

dblp:370/4625 · DBLP profile ↗
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1ranked-venue papers
0as first author
1since 2021 · last 2023
—ORCID · none

Domains — the database's venue-derived domains; a paper can count in several

Applied, interdisciplinary, general and emerging computing · 1 · 1 since 2021

Expertise — from the expertise taxonomy: the topics of the expert's papers under the CCF categories. A weight counts papers with recency: 1 for a paper about the topic, 0.3 when the topic is its context, halved every five years.

Interdisciplinary, comprehensive, and emerging computing
1 paper
Bioinformatics and computational biology · 62% Medical and health informatics · 38%

Topics — the 4 heaviest of 4, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Medical and health informatics
clinical decision support
0.712023
diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype · Bioinform. 2023
Bioinformatics and computational biology › statistical genetics
phenotype-genotype integration
0.712023
diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype · Bioinform. 2023
Bioinformatics and computational biology
genomics
0.212023
diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype · Bioinform. 2023
Bioinformatics and computational biology › statistical genetics
variant prioritization
0.212023
diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype · Bioinform. 2023

Methods — techniques the papers use, named apart from their topics

phenotypic similarity · 0.7ACMG-Bayes · 0.7
YearPublicationVenuePosition
2023 diseaseGPS: auxiliary diagnostic system for genetic disorders based on genotype and phenotype
abstract
SUMMARY: The next-generation sequencing brought opportunities for the diagnosis of genetic disorders due to its high-throughput capabilities. However, the majority of existing methods were limited to only sequencing candidate variants, and the process of linking these variants to a diagnosis of genetic disorders still required medical professionals to consult databases. Therefore, we introduce diseaseGPS, an integrated platform for the diagnosis of genetic disorders that combines both phenotype and genotype data for analysis. It offers not only a user-friendly GUI web application for those without a programming background but also scripts that can be executed in batch mode for bioinformatics professionals. The genetic and phenotypic data are integrated using the ACMG-Bayes method and a novel phenotypic similarity method, to prioritize the results of genetic disorders. diseaseGPS was evaluated on 6085 cases from Deciphering Developmental Disorders project and 187 cases from Shanghai Children's hospital. The results demonstrated that diseaseGPS performed better than other commonly used methods. AVAILABILITY AND IMPLEMENTATION: diseaseGPS is available to freely accessed at https://diseasegps.sjtu.edu.cn with source code at https://github.com/BioHuangDY/diseaseGPS.
Daoyi Huang, Pin Li, Yongfen Lyu, Jincai Feng, Mingyue Wei, Zhixing Zhu, Jianlei Gu, Yongyong Ren, Guangjun Yu, Hui Lu 0004
Bioinform.6