Introduction to Bioinformatics
2023-2024
           Nguyen Thuy Vy
             Vo Tri Nam
          Hong Vu Thuy Uyen
            Introduction to Bioinformatics   1
COURSE GOALS/LEARNING OUTOMES
 LO   General description
 G1   Understand the increasing necessity for bioinformatics in modern life sciences research
 G2   Describe the central role and major scopes of biological databases
      Describe common bioinformatics algorithms in sequence comparisons and sequence-
 G3
      based database searches
 G4   Present some bioinformatics tools applied in drug design based on protein structure
      Understand genomics approaches including – genome sequencing, comparative and
 G5
      functional genomics
 G6   Apply presented bioinformatics approaches to address biological questions
                                     Introduction to Bioinformatics                             2
CLASS SYLLABUS
Week   Topic                                                            LO      Instructor
       Introduction
 1                                                                      G1      NGUYEN Thuy Vy
       Biological foundations of bioinformatics
 2     Biological databases                                            G2, G6   VO Tri Nam
       Sequence comparisons and sequence-based database
 3                                                                     G3, G6   VO Tri Nam
       searches
       Protein structures and structure-based rational drug
 4                                                                     G4, G6   VO Tri Nam
       design
 5     Genomics - Genome sequencing                                    G5, G6   NGUYEN Thuy Vy
       Genome annotation
 6                                                                     G5, G6   NGUYEN Thuy Vy
       Comparative genome analyses
                                      Introduction to Bioinformatics                             3
Genomics
           4
The Genome
             5
6
Genomes vary in size and content
                                   7
8
Gene structure
                 9
Why we care about sequencing and
     analyzing the genome?
                                   10
Why we care about sequencing the genome?
                            Môi trường, epigenetics
Central Dogma
                                              Phenotype
                                                          11
Genomics: tool for basic science
                                   12
  GIẢI MÃ
                  XÁC ĐỊNH CƠ CHẾ
                     GÂY BỆNH
                                     CHẨN ĐOÁN
                                    PHÂN TỬ & LIỆU
Bộ gene người
                                      PHÁP GENE
                Bộ gene các sinh
                    vật khác
                                                     13
Genomics: tool for medicine
                              14
Genomes, Transcriptomes, and Proteomes
  Central Dogma
                             Bioinformatics
                                              15
Genomics: shaped by technology
                                 16
The sequencing cost
                      17
Sequencing technologies and
      NGS overview
                              18
What is DNA sequencing?
                          19
Whole genome sequencing (WGS) method
A clone-by-
clone, or map-
based,
approach
                                       20
               WGS method
Whole-genome
shotgun, the
most common
approach
                            21
                   WGS methods
                          A clone-by-clone, or map-based,
Shotgun approach                     approach
                                                            22
Sequencing technologies
                          23
Polymerase chain reaction (PCR)
                                  24
Sanger sequencing
                    25
26
NGS overview
               27
NGS overview
               28
29
30
NGS
technologies
Sequencing by
synthesis (Illumina)
                       31
NGS
technologies
Sequencing by
synthesis (Illumina)
                       32
33
Định dạng file dữ liệu thô fastq
                                   34
NGS
technologies
Ion torrent
(Thermo)
               35
Two major approaches for genome sequencing data
                                                  36
Genome assembly (de novo assembly)
                                     37
De novo assembly
                   OLC: Overlap
                   Layer Consensus
                                38
        De novo assembly
Input
                           39
De novo assembly
                   40
De novo assembly
                   41
Resequencing for variant detection
                                     42
Resequencing for variant detection
           Variant selection criteria: coverage > …X
                                                       43
Dealing with repeat regions
                              44
Next NGS (long-read)
                       45
Next NGS (long-read)
                       46
PacBio and ONT can use unaltered DNA to detect methylation
                       https://en.wikipedia.org/wiki/Third-generation_sequencing#/media/File:3rd_gen_Epigenetics.png
                                                                                                                       47
Portable sequencing
      devices
                  Third generation
                  sequencing
                                     48
                NGS technologies
Data analysis
                                   49