Genetic Data Analysis for Prevention of Birth Defect

Overview

With the rapid development of molecular diagnostic testing technology, the application of this technology in the early screening, diagnosis, and risk assessment of birth defects diseases is becoming more and more widespread, and more and more units are involved in genetic disease detection and diagnosis services. As an important link in transforming intangible data into tangible results, disease-related genetic data analysis and interpretation is an important bridge between genetic testing technology and clinical diagnosis and application.

What topic will you cover?

Starting from the application of high-throughput sequencing technology in the detection of genetic diseases, this program systematically introduces the principles of high-throughput sequencing technology and the data analysis process of bioinformatics. The program focuses on genetic data analysis for diseases related to birth defects, including the analysis methods and workflow,  systematic introduction of ACMG guidelines, methods of interpreting the pathogenicity of variant loci, use of common databases, interpretation of test reports, and sharing of genetic counseling in combination with classic clinical cases.

Who is the course for?

  1. With medical or genetics background

  2. Engaged in genetic analysis, genetic counseling, clinical testing and related specialties

  3. Interested in clinical diagnosis, treatment, genetic analysis, and genetic counseling for birth defect diseases

Learning on this course

The courses combine theories with practices, delivered by recorded videos. Hand-on exercise will be tutored through live webinar.

Recorded Video Courses

Introduction 

Application of High Throughput Sequencing Technology in the Detection of Genetic Diseases

Basics Genetic and Genomic Knowledge

Introduction to Genomics

Term & Nomenclature Related to Genetic Analysis

The Principles of High Throughput Sequencing Technology

Sequencing Data Analysis

Introduction of Linux System & The Method to Use the Vim Editor

Professional Practice: The Data Analysis Process of Bioinformatics

Genetic Analysis

Interpretation of Common Birth Defect Disease Detection Procedures and Reports

Basic Knowledge And Rules of Variant Interpretation

How to Interpret the Pathogenicity of Genetic Variants

Case Study:Clinical Interpretation of Sequence Variants(Introduce the Rules of ACMG)

Professional Practice: How to Use the Common Database to Analysis the Gene Mutation;

Genomic Counselling

An Introduction of Genetic Counselling: History,Current Statuss and Process

Counselling in Genetic Counselling

Genetic Diagnosis, Counseling and Gene Therapy for Hearing Loss

Prenatal Diagnosis and Genetic Counseling for Chromosomal Disorders

Molecular Diagnosis and Genetic Counseling for Inherited Cardiovascular Diseases

Scientific Research Methods

Introduction to the Scientific Research Projects Design(Utilizing High-Throughput Sequencing Technology to Investigate Monogenic Diseases)

Precision Oncology: Bring Omics into Cancer Clinical


Live Webinar

Hands-on Exercises

Bioinformatic Data Analysis

Genetic Analysis and Interpretation of Monogenic Disease

Genetic Counseling Case Demonstration and Discussion

Duration

30 hours recorded videos  8 hours Live Webinar (Optional)

Advantages

 Top-notch Instructors

  1. Experts in genomics, genetics, and clinical genetic counseling fields

  2. A professional team with rich practical experience in the analysis, mining, and interpretation of genetic disease data will personally give lectures

 Practical Skills

  1. Take common single gene diseases in clinical practice as an example, combined with project practical experience

  2. Demonstrate the data analysis and interpretation process of genetic diseases

  3. Introduce the methods and processes for assessing the pathogenicity of heterotopic sites

  4. Demonstrate the genetic counseling process for common birth defect diseases

  5. Share solutions and experiences for solving difficult problems

 Systematic Courses

Sample collection - Library construction - High-throughput sequencing - Data analysis and interpretation - Report issuance - Genetic counseling

Certificate

Acquire knowledge of genetic data analysis and interpretation, pass an exam, and earn a qualified certificate from the BGI College.


Instructors


Prof. Xiuqing Zhang

Title

Professor of the University of the Chinese Academy of Science - BGI College

Doctoral supervisor

Director of Guangdong Provincial Key Laboratory of Human Disease Genomics

Research Interests

Mainly engaged in the development of second-generation sequencing-based technology applications and translational research in tumor genomics and immunomics.

Research achievements

Has undertaken over 10 scientific research projects, including the National High-tech R&D Program of China (863 Program), National Key R&D Projects of China, the Knowledge Innovation Project of the Chinese Academy of Sciences, and the National Natural Science Foundation of China. During the 12th Five-Year Plan period, as a member of the overall expert group of the 863 Program  and the coordinator of the "China Cancer Genome Project", she led and was responsible for the 863 Program major project "Genome Technology for Major Diseases". This project joined the "International Cancer Genome Collaboration Group (ICGC)" to form international cooperation. Good research results have been achieved in the development and clinical application of non-invasive prenatal gene detection technology, tumor single cell research, viral genome integration research of tumor cells, genome research of esophageal cancer, bladder cancer and kidney cancer, and related papers have been published in "cell", "Nature" and "Nature Genetics", etc.


Dr. Tao Yang

Shanghai Ninth People's Hospital, Shanghai JiaoTong University School of Medicine

Title

Researcher

Doctoral supervisor

National Outstanding Youth Scholar

New Century Excellent Talent of the Ministry of Education in China

Distinguished Professor of Shanghai Universities (Oriental Scholars)

Vice President of the Hearing, Speech and Communication Subsociety of Biophysics Society of China

Director of the Precision Medical Subsociety of the National Association of Health Industry and Enterprise Management

Research achievements

Engaged in long-term research on the molecular mechanism and transformation application of hereditary deafness, undertaken 5 projects under the National Natural Science Foundation of China, published more than 50 corresponding author SCI papers, and won the C.W. Catterman Award from the American Society for Human Genetics, the Silver Snake Award from the Shanghai Health System, and the Meiji Life Science Award from Shanghai.


Dr. Duan Ju

Tianjin Medical University General Hospital Prenatal Diagnosis Center and Genetic department

Title

Attending Physician

Committee Member of the Male Reproductive Medicine Branch of Tianjin Sexual Science Association

Research Interests

Genetic etiology and mechanistic research of fetal multi-malformations and intrauterine growth retardation

study of genetic and epigenetic causes and predictive model construction for recurrent miscarriages.

Publication

Participated in projects funded by the National Natural Science Foundation and the Tianjin Science and Technology Commission.


Dr. Jiankang Li

Ph.D. in Computer science, City University of Hong Kong

Title

Associate Research fellow, BGI Research

Master's Supervisor, BGI College

Adjunct Master's Supervisor, Zhengzhou University

Shenzhen high-level talent

Shenzhen Yantian District "Wutong Phoenix" talent

Research Interests

High-throughput Multi-omics Sequencing Technology

Inherited Eye disease and Medulloblastoma

Research Output

Publication of 44 research articles in SCI journals including《Brain》, 《Blood》 and《ophthalmology》.

Application of 7 patents of invention in China.  


 Mr. Andy Lok

Master of Philosophy (Sociolinguistics and Genetic Counselling), The University of Hong Kong

Title

Genetic counsellor, Centre of Assisted Reproduction and Technology, The University of Hong Kong-Queen Mary Hospital

Research Interests

Discourse analysis and genetic counselling

Children in genetic counselling

Polycystic kidney disease 

Publication

1.Hui, A.L.C., Zayts-Spencer, O., Chung, B.H.Y. (2021) Elicitation of children’s understanding of information in pediatric genetic counseling encounters: A discourse-oriented perspective. Journal of Genetic Counselling.

2.Hui, A.L.C. (2021) Book Review. [Review of the book Palliative Care conversations: clinical and applied linguistic perspectives by D. Gramling & R. Gramling]. Language in Society.

3.Yu, Z., Tang, P.L.F., Wang, J., Bao, S., Shieh, J.T., Leung, A.W.L., Zhang, Z., Gao, F., Wong, S.Y.Y., Hui, A.L.C., Gao, Y., Dung, N., Zhang, Z.G., Fan, Y., Zhou, X., Zhang, Y., Wong, D.S.M., Sham, P.C., Azhar, A., Kwok, P.Y., Tam, P.P.L., Lian, Q., Cheah, K.S.E., Wang, B., Song, Y.Q. (2018) Mutations in hnrnpa1 cause congenital heart defects. JCI Insight Jan, 3(2) https://insight.jci.org/articles/view/98555

Personal Webpage

https://www.linkedin.com/in/lok-chung-andy-hui/


Ms. Zhihong Ji

Title

Senior Genomic (Genetic) Counselor

Member of Bioethics Biosafety and Genetic Resources Management Committee

Member of Public Charity and Ethics Committee, China Health Information and Healthcare Big Data Society

National Senior Health Manager in China

Member of NLP Professional Committee of Shenzhen Association of Psychological Counseling

Experience

Ms. Ji has been engaged in genetic counseling since 2015, with the main counseling direction of individual genome-wide counseling, and cross-omics comprehensive counseling. Her current research and counseling area is genetic counseling for inherited cardiovascular diseases.


Dr. Zewei Song

Dr. Song received his Ph.D. degree in 2014 from the University of Minnesota, Twin Cities, at the department of Bioproducts and Biosystems Engineering. At 2017, he joined Institute of Metagenomics of BGI as a senior scientist leading the new track on environmental microbiology.

Research Field

His research focuses on Metagenomics.

Major Achievements

Dr. Song has established long-term collaborations with various institute across China and overseas, including Chinese Agricultural Academy of Sciences, University of Minnesota, University of Ljubljana, and many others. 

Teaching experience

Dr. Song also dedicated himself in teach principles of metagenomics to students and researchers with various background. The series course on metagenomics developed by Dr. Song has a wide range of audience, from graduate student of U of M, Chinese Academy of Sciences, to researchers of main research institutes, such as CIAT at Vietnam.


Mr.Xinming Liang

Core R&D Senior Manager of Sequencer R&D Center, MGI Tech Co., Ltd. 

Research Field

He has 12 years’ experience in bioinformatics analysis, participated in several animal and plant genome projects, familiar with evolution, population resequencing analysis. Currently, he is mainly engaged in data performance evaluation of domestic high-throughput sequencers, application kits and research and development of bioinformatics software products.


Dr. Quan Shi

Dr. Shi received his Ph.D. degree in molecular biology from the University of Copenhagen and now continous his postdoc research in University of Copenhagen.

Research Field

His primary research field is computational biology in single-cell omics and spatial transcriptome. In addition, he is an open-source software developer and developed algorithms and software for TF and gene regulatory network analysis and trajectory analysis during mammalian organ development and regeneration. 

Scientific production

He has published 12 papers in multiple research journals.


Dr. Mingyan Fang

Dr. Fang’s main interest lies in human disease research using multi-omics approach, she has strong expertise in applying multi-omics and bioinformatics technologies on disease study. She uses machine learning and other data mining technologies to explore the synergistic effect between genes, and to identify new disease biomarkers. She is also committed to translating research findings into disease screening, diagnosis and therapeutics.

She received the Overseas High-Caliber Personnel in Shenzhen and Phoenix Tree Talent in Shenzhen Yantian. She is the principal investigator of a National Natural Science Foundation of China (NSFC) funded project, which is to explore of oligogenic mechanism in Primary Immunodeficiency. She is also the principal investigator of a project that investigates the genetic basis of systemic lupus erythematosus, and the project was funded by Science, Technology and Innovation Commission of Shenzhen Municipality. At the same time, she is the recipient (collaborator) of a number of national, provincial or municipal research grants.

Research Field

Multi-omics study of human disease, disease translational research, immunogenetics.

Scientific Production

She has published more than 50 papers in this fields (h-index 29, more than 2000 citations according to Google scholar), 17 of which were published as first or corresponding author. She is the inventor of 15patents (12 have been granted, seven of which she was the first inventor), she has applied for 4 software copyrights, and participated in the writing of one book.


Ms. Yongchun Yuan

MSc Genomics Medicine, St. George’s, University of London.

Position

Genomic counselor, BGI Co., Ltd.

Personal Experience

Engaged in genetic analysis and genetic testing report consultation and interpretation for 2 years. Participated in the writing of the "Belt and Road" regional standard  "The Application Specification of DMD Mutation Detection Based on High-Throughput Sequencing Technology (LSEA0004-2022)". Participated in and completed the "Shanghai Genetics Society 2023 National Continuing Medical Education Project - Birth Defects and Genetic Counseling Training Course".


Dr. Xin Zhao

PhD, Associate Professor and Senior Research Scientist in BGI Research. 

Research Field

1) Dissecting molecular networks in the tumor microenvironment to explore intratumor heterogeneity and evolution. And exploring the feasibility of applying omics molecular features for early diagnosis and drug treatment in liver and lung cancer non-invasively. (Huang et al., J hepatol.2017; Zhang et al., Cancer Lett.2019; Ma et al., Clin. Transl. Med.2021; Zhao et al., BMC Med., 2021; Zhang et al., Transl. lung Cancer Res.2022).

2) Utilizing spatiotemporal omics to deeply elucidate the characteristics of tumor immune microenvironment in lung cancer, as well as the critical factors involved in tumor microenvironment reshaping (Zhao et al, preprint. 2023).

Scientific Production

She has published over 20 papers and applied for 28 patents so far. She has worked as a core expert on several grants funded by the 863 Program and the National Key R&D Program of China. She also is the senior lecturer and supervisor of the doctoral candidates at BGI College, an evaluation expert in the Department of Science and Technology of Guangdong Province, an academic leader in Guangdong Provincial Key Laboratory of Human Disease Genomics and the Committee Members of Hereditary Cancer branch of Guangdong Anti-cancer Association in China.



Course fees

For course purchases or group discounts, please contact us at bgi-college@genomics.cn for inquiries.