Author

Lisha Chen

BGI Group (China)ORCID 0000-0001-8980-5275Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Bioinformatics· 1 Genetic & Genomic Medicine· 1 Genetics· 1

Signature Assays, Organisms & Methods

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Organism:human· 3 Approach:statistical model· 3 Research Focus:differential expression· 1 Assay:DNA methylation· 1 Assay:GWAS summary statistics· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Jiale XiangiD· 3 shared Nana SongiD· 3 shared Zhiyu PengiD· 3 shared Ahmad N. Abou TayouniD· 2 shared Jiguang PengiD· 2 shared Chunming Cui· 1 shared Hongyu Luo· 1 shared Jing WangiD· 1 shared

Activity by Year

2021-2022 · peak 2/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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3 shared papersGenetics

Jiale XiangORCID

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3 papers

Recent·Most cited

GeneticsHuman GeneticsPeer-reviewedSep 1, 2022

Comprehensive simulation and interpretation of single nucleotide substitutions in GJB2 reveals the genetic and phenotypic landscape of GJB2-related hearing loss

Jiale Xiang, Xiangzhong Sun, Nana Song…·Zhiyu Peng

The paper interprets all possible single-nucleotide substitution variants in the GJB2 gene, classifies them by pathogenicity, and identifies genotype-phenotype correlations in hearing loss.

12 citations

humanDNA methylation

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BioinformaticsHuman MutationPeer-reviewedAug 24, 2021

VIP-HL: Semi-automated ACMG/AMP variant interpretation platform for genetic hearing loss

Jiguang Peng, Jiale Xiang, Xiangqian Jin…·Zhiyu Peng

VIP-HL semi-automates ACMG/AMP variant interpretation for genetic hearing loss, achieving high concordance with expert panels and available as a web tool.

17 citations

humanGWAS summary statistics

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Genetic & Genomic MedicineScientific ReportsPeer-reviewedFeb 17, 2021

Molecular diagnosis of non-syndromic hearing loss patients using a stepwise approach

Jing Wang, Jiale Xiang, Lisha Chen…·Zhiyu Peng

This study uses a stepwise approach combining multiplex PCR and exome sequencing to diagnose 64% of non-syndromic hearing loss patients, identifying 59 molecular diagnoses from 92 unrelated cases.

13 citations

humanwhole-exome sequencing

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