Genomics

Introduction to Bioinformatics
(Tin sinh học đại cương)
Nguyen Thuy Vy, PhD

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The Genome

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Genomes vary in size and content

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Gene structure

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Why we care about sequencing
and analyzing the genome?

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Why we care about sequencing the genome?
Central Dogma
Phenotype

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Genomics: tool for basic science

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 GIẢI MÃ

XÁC ĐỊNH CƠ CHẾ

GÂY BỆNH

CHẨN ĐOÁN
PHÂN TỬ & LIỆU
Bộ gene người
PHÁP GENE

Bộ gene các sinh

vật khác

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Genomics: tool for medicine

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Genomes, Transcriptomes, and Proteomes

Central Dogma

Bioinformatics

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Genomics: shaped by technology

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The sequencing cost

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Sequencing technologies and
NGS overview

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What is DNA sequencing?

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Whole genome sequencing (WGS) method

A clone-by-
clone, or map-
based,
approach

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 WGS method

Whole-genome
shotgun, the
most common
approach

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 WGS methods
A clone-by-clone, or map-based,
Shotgun approach approach

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Sequencing technologies

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Polymerase chain reaction (PCR)

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Sanger sequencing

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NGS overview

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NGS
technologies
Sequencing by
synthesis (Illumina)

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NGS
technologies
Sequencing by
synthesis (Illumina)

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NGS
technologies

Ion torrent
(Thermo)

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Genome assembly

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 Genome assembly

Input

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Genome assembly

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Genome assembly

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Genome assembly

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Resequencing for variant detection

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Data analysis

Variant selection criteria: coverage > …X

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Dealing with repeat regions

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Next NGS (long-read)

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Portable sequencing
devices

Third generation
sequencing

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 NGS technologies
Data analysis

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Sequencing technologies

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