Author

Xiaoming Wei

BGI Group (China)ORCID 0000-0002-7471-8344Unclaimed ORCID profile · follow to get notified of new preprints

Biology Disciplines

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Signature Assays, Organisms & Methods

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Approach:experimental assay· 2 Organism:human· 2 Research Focus:differential expression· 1 Research Focus:variant calling· 1 Research Focus:variant effect prediction· 1 Assay:whole-exome sequencing· 1

Frequent Co-Authors

Hui HuangiD· 2 shared Liangwei MaoiD· 2 shared Hao LiiD· 1 shared Huanhuan CuiiD· 1 shared Jianfen Man· 1 shared Jin HuangiD· 1 shared Jing WuiD· 1 shared Keke LiniD· 1 shared

Activity by Year

2018-2019 · peak 1/yr

Co-Author Collaboration Network

10 top collaborators · 30 mutual co-author links

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2 shared papersGenomics

Hui HuangORCID

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2 papers

Recent·Most cited

GenomicsbioRxivPreprintJun 26, 2019

Clinical diagnosis of single-gene disorders and chromosomal abnormalities based on BGISEQ-500 platform

Yanqiu Liu, Liangwei Mao, Xiaoming Wei…·Hui Huang

This study develops a chip-based sequencing method to detect monogenic diseases and chromosomal abnormalities, identifying 102 mutations in 63 patients with 69 new mutations.

DOI 10.1101/675991

humanwhole-exome sequencing

𝕏 PostBluesky

GeneticsbioRxivPreprintSep 18, 2018

A familial case of Syndactyly type IV due to a novel duplication of ~222.23 kb covering exons 2-17 of the LMBR1 gene: a case report

Lijing Shi, Hui Huang, Qiuxia Jiang…·Jing Wu

The paper reports a familial case of Syndactyly type IV caused by a novel LMBR1 gene duplication, highlighting clinical variability and expanding the known phenotype.

DOI 10.1101/420588

humanexperimental assay

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