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Luhua Lin

dblp:258/2507 · DBLP profile ↗
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1ranked-venue papers
0as first author
0since 2021 · last 2019
—ORCID · unresolved

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

Applied, interdisciplinary, general and emerging computing · 1

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 · 100%

Topics — the 2 heaviest of 3, each with the papers that count most for it

TopicWeightPapersLastEvidence papers
Bioinformatics and computational biology › clinical bioinformatics
genetic variant classification
0.412019
Assessing concordance among human, in silico predictions and functional assays on genetic variant classification · Bioinform. 2019
Bioinformatics and computational biology › statistical genetics
variant effect prediction
0.412019
Assessing concordance among human, in silico predictions and functional assays on genetic variant classification · Bioinform. 2019

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

saturation genome editing · 0.4neural network · 0.4
YearPublicationVenuePosition
2019 Assessing concordance among human, in silico predictions and functional assays on genetic variant classification
abstract
MOTIVATION: A variety of in silico tools have been developed and frequently used to aid high-throughput rapid variant classification, but their performances vary, and their ability to classify variants of uncertain significance were not systemically assessed previously due to lack of validation data. This has been changed recently by advances of functional assays, where functional impact of genetic changes can be measured in single-nucleotide resolution using saturation genome editing (SGE) assay. RESULTS: We demonstrated the neural network model AIVAR (Artificial Intelligent VARiant classifier) was highly comparable to human experts on multiple verified datasets. Although highly accurate on known variants, AIVAR together with CADD and PhyloP showed non-significant concordance with SGE function scores. Moreover, our results indicated that neural network model trained from functional assay data may not produce accurate prediction on known variants. AVAILABILITY AND IMPLEMENTATION: All source code of AIVAR is deposited and freely available at https://github.com/TopGene/AIvar. SUPPLEMENTARY INFORMATION: Supplementary data are available at Bioinformatics online.
Jiaqi Luo, Tianliangwen Zhou, Xiaobin You, Yi Zi, Yangming Wu, Zhaoji Lan, Qihuan Zhi, Dandan Yi, Zaixuan Zhong, Mei Zhu, Jianmei Rao, Luhua Lin, Jianfeng Sang, Yujian Shi
Bioinform.17