Author

Yaya Guo

BGI GenomicsORCID 0009-0005-4188-4855Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Genetic & Genomic Medicine· 1 Genomics· 1

Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:variant calling· 2 Assay:long-read sequencing· 1 Assay:whole-genome sequencing· 1

Frequent Co-Authors

Jiale XiangiD· 2 shared Shanshan Gu· 2 shared Shiping CheniD· 2 shared Xiangzhong Sun· 2 shared Baosheng ZhuiD· 1 shared H. J. YangiD· 1 shared Haiyan XuiD· 1 shared Haodong Ye· 1 shared

Activity by Year

2025-2026 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 37 mutual co-author links

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2 shared papersGenomics

Jiale XiangORCID

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2 papers

Recent·Most cited

GenomicsHuman GenomicsPeer-reviewedAug 14, 2026

The comprehensive detection of hemoglobinopathy variants via long-read sequencing

Jiale Xiang, Jiguang Peng, Xiangzhong Sun…·Zhiyu Peng

This paper develops a long-read indexed PCR method using the CycloneSEQ nanopore platform to detect all hemoglobinopathy variants with 100% sensitivity and specificity.

1 citation

humanlong-read sequencing

𝕏 PostBluesky

Genetic & Genomic MedicinemedRxivPreprintAug 11, 2025

High-resolution mapping of DMD duplications using long-read sequencing enables precise carrier screening for Duchenne muscular dystrophy

H. J. Yang, Yanling Dong, Zhigang Wang…·Jiale Xiang

This study uses long-read sequencing to precisely map DMD duplications, improving carrier screening and variant classification for Duchenne muscular dystrophy.

DOI 10.1101/2025.08.11.25333458

humanwhole-genome sequencing

𝕏 PostBluesky