Summary
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LAN YU

LAN YU

Hangzhou

Summary

Molecular biologist and genomics researcher with 15+ years of experience in experimental design, next-generation sequencing, and computational analysis. Skilled in optimizing laboratory workflows for efficient and accurate results. Experienced in mentoring junior scientists to foster their growth and development. Recognized for leading collaborative research projects resulting in high-impact publications and advancements in clinical practices.

Overview

23
23
years of professional experience

Work History

Principal Investigator

Children’s Hospital School of Medicine, Zhejiang University
02.2020 - Current
  • Direct the Laboratory of Molecular Genetics, specializing in omics data analysis for gene discovery
  • Lead multiple research projects on pediatric diseases, with a focus on birth defects such as congenital diaphragmatic hernia, congenital heart defects, Pediatric cardiomyopathy, congenial pulmonary airway malformation, differences of sex development), and Vulval lichen sclerosus
  • Supervise and mentor research team members in the analysis of omics data (genomic, RNA-seq, scRNA-seq, 16S rRNA sequencing, and metabolism), providing guidance in experimental design and troubleshooting
  • Collaborate with cross-disciplinary teams, including physicians and researchers, to advance research findings into clinical applications

Director

Molecular Diagnostics Center, Children's Hospital
02.2020 - Current
  • Lead the development and optimization of NGS-based clinical genetic diagnostics platforms, including overseeing experimental procedures, bioinformatics analysis, data curation, and the creation of clinical genetic testing report workflows for rare diseases and cancer genomics
  • Provided genetic counseling as part of a multidisciplinary diagnostic team (MDT) to support clinical decision-making and patient management

Associate Research Scientist

Columbia University
03.2017 - 06.2019
  • Designed and executed NGS-based studies to identify candidate genes and pathogenic CNV, SNVs, indels in patients with congenital diaphragmatic hernia (CDH) and atypical diabetes (MODY), both in familial and sporadic cases
  • Analyzed and interpreted exome/genome/RNA sequencing data to uncover genetic variants associated with rare diseases
  • Authored and co-authored research papers, including those on de novo variants and their implications in pediatric diseases, leading to publications in peer-reviewed journals
  • Mentored junior scientists, providing guidance on experimental design, data analysis, and manuscript writing

Senior Scientist

Zhejiang Ivy Genome Technology Co. Ltd.
08.2015 - 03.2017
  • Developed high-throughput screening panels for breast cancer (BRCA1/2), screening over 20,000 individuals
  • Curated, interpreted, and reported the clinical significance of rare variants in BRCA1/2 according to ACMG guidelines and internal criteria
  • Established carrier screening panels for rare diseases, enhancing genetic testing capabilities in clinical diagnostics and patient management
  • Developed polygenic risk scores for risk prediction of common diseases, enhancing predictive accuracy for consumer genetics and personalized health assessments
  • Led NGS assay development and somatic variant curation of genes (e.g
  • EGFR, ALK, RET, BRAF, ERBB2, and KRAS) to prioritize pharmaceutical targeted drug therapies

Science Consultant (Part-Time)

Cloud Health Medical Group Ltd.
12.2014 - 11.2015
  • Annotated genomic variants using the ANNOVAR program for next-generation sequencing data
  • Provided scientific consulting for researchers and physicians from universities and hospitals in China

Associate Research Scientist

Columbia University, Dept. of Pediatrics
01.2011 - 11.2014
  • Developed and optimized protocols for identifying chromosomal anomalies, focusing on CNVs in birth defects such as congenital diaphragmatic hernia (CDH)
  • Pioneered studies linking pathogenic variants in GATA4 and GATA6 to congenital diaphragmatic hernia (CDH) through whole exome sequencing
  • Led RNA-seq analysis projects in human fibroblast cells and tissues to identify gene expression differences and genetic variants associated with congenital birth defects
  • Supervised technical staff and mentored junior researchers, contributing to laboratory operations and research efficiency
  • Applied pathogenic variants results to clinical diagnostics for earlier detection of congenital birth defects

Postdoctoral Fellow

Johns Hopkins University School of Medicine
09.2008 - 12.2010
  • Identified the causative gene variant in CACNA1A for a large autosomal dominant neurodevelopmental disorder pedigree using SNP arrays and targeted gene analysis
  • Led the genetic work that resulted in the first discovery of a point mutation in NPAS3, a schizophrenia candidate gene, in a family with multiple affected individuals
  • Investigated genetic modifiers in Huntington’s disease to uncover potential disease mechanisms
  • Developed a Comparative Genomic Hybridization array (CGH) array for detecting tandem repeats associated with various genetic diseases

Assitant/Associate Research Professor

Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
07.2006 - 09.2008

Group Leader

Bio-X Center, Shanghai Jiaotong University
07.2006 - 09.2008
  • Supervised PhD students and technicians in case/control and trio-family genetic studies, focusing on psychiatric disorders, type 2 diabetes, lung cancer, stroke, and Alzheimer’s disease
  • Managed genetic and epidemiological studies on the relationship between famine and schizophrenia
  • Led malnutrition-based mice model studies to investigate genetic factors in metabolic diseases

Visiting Student

The University of Aberdeen
09.2003 - 06.2004
  • Conducted a study to rule out the association between MTHFR gene SNPs and schizophrenia, using case-control and trio study designs
  • Assisted in collecting and translating materials for epidemiological research on schizophrenia and famine in Anhui and Guangxi provinces

Intern

Beijing Genomics Institute (BGI)
06.2001 - 08.2001
  • Gained hands-on experience in laboratory technologies and scientific methodologies
  • Participated in rice genomics research projects

Education

Ph.D. - Molecular Biology

Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
01.2006

B.Sc. - Biological Sciences

Minzu University of China
01.2001

Skills

  • Next-Generation Sequencing (NGS): Expertise in experimental design, sequencing technologies, and optimizing workflows for whole-exome, whole-genome, RNA, single-cell RNA, spatial transcriptomics, and 16sRNA sequencing for complex biological samples
  • Bioinformatics: Proficient in genomic, RNAseq, ScRNAseq data analysis and integrating computational tools (R, Python, Cell Ranger, Seurat, STAR, GATK) for experimental outcomes
  • Leadership & Mentorship: Successfully supervised master’s/PhD students, technicians, and junior scientists
  • Collaboration: Extensive experience working with cross-functional teams and external collaborators to drive research innovation
  • Scientific Communication: Strong record of presenting complex data through peer-reviewed publications, conference presentations, and team discussions

Grants

  • Zhejiang Natural Science Foundation, LY24H020002, 2025-2027, Study on the Role and Mechanism of ATAD3A Mutation Regulating Mitochondrial Dynamic Imbalance Mediated by RHOT2-Myo19 Pathway in Pediatric Heart Failure.
  • National Science Foundation for Young Scientists of China, 81501295, 2016-2018, De novo variants analysis in congenital diaphragmatic hernia.
  • Knowledge innovation program of Chinese Academy of Sciences for young scientist, 2007KIP210, 2007-2009, Epigenetic studies in malnutrition and schizophrenia.

Publications

Published total of 69 (First/Corresponding Author: 26)papers demonstrating expertise in:

  • Next-generation sequencing method development and application
  • Genetic variant analysis and interpretation
  • Rare and Complex disease genomics
  • Molecular mechanism studies

Complete publication list available at:  

https://scholar.google.com/citations?hl=en&user=9ABvvY8AAAAJ&view_op=list_works&sortby=pubdate

Recent Key Publications

1. Chen HY*, et al., Yu L#. Application and insights of targeted next-generation sequencing in a large cohort of 46,XY disorders of sex development in Chinese. Biol Sex Differ. 2024 Sep 16;15(1):73.

2. Liu SY, Yu L. Role of genetics and the environment in the etiology of congenital diaphragmatic hernia. World J Pediatr Surg. 2024 Aug 21;7(3):e000884.

3. Li F*, et al., Yu L#. Integrative analysis of bulk and single-cell RNA sequencing reveals the gene expression profile and the critical signaling pathways of type II CPAM. Cell & Bioscience. 2024 July 8. 10.1186/s13578-024-01276-8. Online

4. Tan Z, et al., Yu L#.Integrated bulk and single-cell RNA-sequencing reveals SPOCK2 as a novel biomarker gene in the development of congenital pulmonary airway malformation. Respir Res. 2023 May 10;24(1):127.

5. Xue Z, Chen HY, Yu L#, Jiang PF#. A systematic review and meta-analysis of the R778L mutation in ATP7B with Wilson's disease in China. Pediatr Neurol. 2023 May 8;145:135-147.

6. Jiang P, et al, Yu L#. Mitochondrial DNA variant spectrum and the association with chronic tic disorders. Eur J Neurol. 2022 Nov;29(11):3187-3196.

7. Cai R, et al, Yu L#, Fan X#, Su L#. Genotype-guided targeted treatment of KRAS-mutated arteriovenous malformations. J Eur Acad Dermatol Venereol. 2022 Sep;36(9):e708-e710.

8. Qiao L, Xu L, Yu L, et al. Rare and de novo variants in 827 congenital diaphragmatic hernia probands implicate LONP1 as candidate risk gene. Am J Hum Genet. 2021 Oct 7;108(10):1964-1980.

9. Qi H*, Yu L*, etal. De novo variants in congenital diaphragmatic hernia identify MYRF as a new syndrome and reveal genetic overlaps with other developmental disorders. Plos Genetics. 2018 Dec 10;14(12):e1007822.

10. Yu L*, Sawle AD*, et al. Increased burden of de novo predicted deleterious variants in complex congenital diaphragmatic hernia. Hum Mol Genet. 2015 Aug 15;24(16):4764-73. (*co-first authors)

11. Yu L*, Bennett JT*, et al. Whole Exome Sequencing Identifies de Novo Mutations in GATA6 Associated with Congenital diaphragmatic Hernia. J Med Genet. 2014 Mar;51(3):197-202.

12. Yu L, et al. A mutation in NPAS3 segregates with Mental Illness in a small family. Mol Psychiatry. 2014 Jan;19(1):7-8.

13. Yu L, et al. Variants in GATA4 Are a Rare Cause of Familial and Sporadic Congenital Diaphragmatic Hernia. Hum Genet. 2013 Mar;132(3):285-92.

14. Yu L, et al. De novo copy number variants are associated with congenital diaphragmatic hernia. J Med Genet. 2012 Oct;49(10):650-9.

15. Chung DW, Rudnicki DD, Yu L, Margolis RL. A natural antisense transcript at the Huntington's disease repeat locus regulates HTT expression. Hum Mol Genet. 2011 Sep 1;20(17):3467-77.

Book

Neonatal Genetic Screening-Chapter of Data analysis and Artificial Intelligence, People's Health Publishing House, Panjiayuan No. 19, Beijing, Chaoyang District, China, 12/01/2022, ISBN: 9787117336437

Work Availability

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Languages

Chinese (Mandarin)
Bilingual or Proficient (C2)
English
Bilingual or Proficient (C2)

Timeline

Principal Investigator

Children’s Hospital School of Medicine, Zhejiang University
02.2020 - Current

Director

Molecular Diagnostics Center, Children's Hospital
02.2020 - Current

Associate Research Scientist

Columbia University
03.2017 - 06.2019

Senior Scientist

Zhejiang Ivy Genome Technology Co. Ltd.
08.2015 - 03.2017

Science Consultant (Part-Time)

Cloud Health Medical Group Ltd.
12.2014 - 11.2015

Associate Research Scientist

Columbia University, Dept. of Pediatrics
01.2011 - 11.2014

Postdoctoral Fellow

Johns Hopkins University School of Medicine
09.2008 - 12.2010

Assitant/Associate Research Professor

Institute for Nutritional Sciences, Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
07.2006 - 09.2008

Group Leader

Bio-X Center, Shanghai Jiaotong University
07.2006 - 09.2008

Visiting Student

The University of Aberdeen
09.2003 - 06.2004

Intern

Beijing Genomics Institute (BGI)
06.2001 - 08.2001

B.Sc. - Biological Sciences

Minzu University of China

Ph.D. - Molecular Biology

Shanghai Institutes for Biological Sciences, Chinese Academy of Sciences
LAN YU