MF
Mingyan Fang
BGI, Karolinska Institutet, Wuhan University
Research areas: Biochemistry, Genetics and Molecular Biology · Genetics · Genomics and Rare Diseases · Immunodeficiency and Autoimmune Disorders · T-cell and B-cell Immunology
0000-0001-7185-6445
Employment
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BGI Project leader2010 - Present
Education
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Karolinska Institutet Ph.D.2015 - 2019
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Wuhan University Master2008 - 2010
Projects & Funding
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原发性免疫缺陷双（多）基因致病探索及致病致病机制分析 国家自然科学基金委2019 - 2021
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系统性红斑狼疮GWAS及家系研究数据的整合分析及关联研究 深圳市科技创新委2018 - 2020
Publications (76)
- The Genome Atlas of 1,020 Probands and 409 Unaffected Parents Decodes the Clinical Heterogeneity in β-thalassemia Save
- Nonlinear and sex-specific remodeling of the TCRβ repertoire across adulthood Save
- A Novel NKAP Gene Frameshift Mutation in a Sardinian Family Causes Early Cell Death and Secondary Skewed X-Chromosome Inactivation and Associates with Multiple Male Miscarriages Save
- Clinical outcomes of a genomic newborn screening study in Qingdao, China Save
- Deep learning of 777 K bulk transcriptomes reveals human–mouse gene conservation beyond DNA sequence similarity Save
- Population-scale genomic screening reveals high frequency of actionable secondary findings in Chinese newborns Save
- Harnessing artificial intelligence for genomic variant prediction: advances, challenges, and future directions Save
- Whole-genome sequencing reveals Yunnan as the crossroads of East and Southeast Asia for human gene flow Save
- GeneRAIN: multifaceted representation of genes via deep learning of gene expression networks Save
- Age‐Related Dynamics and Spectral Characteristics of the TCRβ Repertoire in Healthy Children: Implications for Immune Aging Save
- Mutations in AMBRA1 aggravate β-thalassemia by impairing autophagy-mediated clearance of free α-globin. Save
- Post-transcriptional regulation supports the homeostatic expression of mature RNA Save
- Whole-genome Sequencing Association Analysis of Quantitative Platelet Traits in A Large Cohort of β-thalassemia. Save
- An atypical form of 60S ribosomal subunit in Diamond-Blackfan anemia linked to RPL17 variants Save
- INDELpred: Improving the prediction and interpretation of indel pathogenicity within the clinical genome. Save
- Genes in Humans and Mice: Insights from Deep learning of 777K Bulk Transcriptomes Save
- Multifaceted Representation of Genes via Deep Learning of Gene Expression Networks Save
- An efficient large‐scale whole‐genome sequencing analyses practice with an average daily analysis of 100Tbp: ZBOLT Save
- Age‐dependent changes in the gut microbiota and serum metabolome correlate with renal function and human aging Save
- The STROMICS genome study: deep whole-genome sequencing and analysis of 10K Chinese patients with ischemic stroke reveal complex genetic and phenotypic interplay. Save