06B.03A · Génétique humaine — session 3

Human genetics — session 3

SMB1 De la molécule à la cellule Génétique et génomique humaine · 64 pages

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Course Overview

1Course Overview

Interactive Poll Setup

3Interactive Poll Setup

Phenotypic Consequences

4Phenotypic Consequences 5Variant Types Overview 6Known Variant Counts 7Individual Variant Burden

Clinical Significance

8Clinical Significance 9Section Outline

A. Allele Frequency

10A. Allele Frequency 11MAF Categories 12Common Variants Predominate 13Frequency vs Rare Disease 14De Novo Variants

De Novo Variants

15Parental Genotype Prediction 16Unexpected G Allele 17Definition & Statistics 18Paternal Age Effect 19Oogenesis vs Spermatogenesis 20De Novo & Rare Disease

B. Functional Impact

21B. Functional Impact 221. SNVs / Indels / Inversions 23Coding vs Non-Coding

Coding vs Non-Coding

24Coding Sequence Defined 251.5% Coding, 98.5% Non-Coding 26Non-Coding Content

B. Functional Impact

271a. Coding Sequence Variants

1a. Coding Sequence Variants

28Genetic Code Redundancy 29Codon Position Effects 30Codon Translation Poll 31Synonymous vs Non-Synonymous SNVs 32Missense SNVs 33Conservative vs Non-Conservative 34Synonymous SNV Poll 35Variants & Phenotype 36Nonsense SNVs 37Reading Frames 38Indel Frameshift 39Frameshift Illustration 40Frameshift Poll 41Inversion Impact

B. Functional Impact

421b. Splicing Alterations

1b. Splicing Alterations

43Splicing Mechanism 44Branch Point & Splice Sites 45GT–AG Splice Signals 46Splicing Defect Types 47Critical Splice Bases

B. Functional Impact

481c. Non-Coding Variants

1c. Non-Coding Variants

49Regulatory Variant Mechanism 50Tissue-Specific Expression 51Regulatory Motif ON/OFF 52Tissue-Specific Transcription Table

B. Functional Impact

532. Larger Variant Impacts 542a. CNV Impacts

2a. CNV Impacts

55CNV Position & Effect 56SV-Caused Syndromes

B. Functional Impact

572b. Numerical Abnormalities

2b. Numerical Abnormalities

58Monosomies & Trisomies

B. Functional Impact

592c. Translocations

2c. Translocations

60Balanced vs Unbalanced 61Meiotic Segregation

62Benign vs Pathogenic Recap 63Genetic Diagnosis Outcomes

Session 3 Objectives

64Session 3 Objectives

06B.03APage 1Course Overview

Génétique humaine — session 3 page 1

06B.03APage 2Slide Legend

Génétique humaine — session 3 page 2

06B.03APage 3Interactive Poll Setup

Génétique humaine — session 3 page 3

06B.03APage 4Phenotypic Consequences

Génétique humaine — session 3 page 4

06B.03APage 5Phenotypic ConsequencesVariant Types Overview

Génétique humaine — session 3 page 5

06B.03APage 6Phenotypic ConsequencesKnown Variant Counts

Génétique humaine — session 3 page 6

06B.03APage 7Phenotypic ConsequencesIndividual Variant Burden

Génétique humaine — session 3 page 7

06B.03APage 8Clinical Significance

Génétique humaine — session 3 page 8

06B.03APage 9Clinical SignificanceSection Outline

Génétique humaine — session 3 page 9

06B.03APage 10Clinical SignificanceA. Allele Frequency

Génétique humaine — session 3 page 10

06B.03APage 11Clinical SignificanceA. Allele FrequencyMAF Categories

Génétique humaine — session 3 page 11

06B.03APage 12Clinical SignificanceA. Allele FrequencyCommon Variants Predominate

Génétique humaine — session 3 page 12

06B.03APage 13Clinical SignificanceA. Allele FrequencyFrequency vs Rare Disease

Génétique humaine — session 3 page 13

06B.03APage 14Clinical SignificanceA. Allele FrequencyDe Novo Variants

Génétique humaine — session 3 page 14

06B.03APage 15Clinical SignificanceA. Allele FrequencyDe Novo VariantsParental Genotype Prediction

Génétique humaine — session 3 page 15

06B.03APage 16Clinical SignificanceA. Allele FrequencyDe Novo VariantsUnexpected G Allele

Génétique humaine — session 3 page 16

06B.03APage 17Clinical SignificanceA. Allele FrequencyDe Novo VariantsDefinition & Statistics

Génétique humaine — session 3 page 17

06B.03APage 18Clinical SignificanceA. Allele FrequencyDe Novo VariantsPaternal Age Effect

Génétique humaine — session 3 page 18

06B.03APage 19Clinical SignificanceA. Allele FrequencyDe Novo VariantsOogenesis vs Spermatogenesis

Génétique humaine — session 3 page 19

06B.03APage 20Clinical SignificanceA. Allele FrequencyDe Novo VariantsDe Novo & Rare Disease

Génétique humaine — session 3 page 20

06B.03APage 21Clinical SignificanceB. Functional Impact

Génétique humaine — session 3 page 21

06B.03APage 22Clinical SignificanceB. Functional Impact1. SNVs / Indels / Inversions

Génétique humaine — session 3 page 22

06B.03APage 23Clinical SignificanceB. Functional ImpactCoding vs Non-Coding

Génétique humaine — session 3 page 23

06B.03APage 24Clinical SignificanceB. Functional ImpactCoding vs Non-CodingCoding Sequence Defined

Génétique humaine — session 3 page 24

06B.03APage 25Clinical SignificanceB. Functional ImpactCoding vs Non-Coding1.5% Coding, 98.5% Non-Coding

Génétique humaine — session 3 page 25

06B.03APage 26Clinical SignificanceB. Functional ImpactCoding vs Non-CodingNon-Coding Content

Génétique humaine — session 3 page 26

06B.03APage 27Clinical SignificanceB. Functional Impact1a. Coding Sequence Variants

Génétique humaine — session 3 page 27

06B.03APage 28Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsGenetic Code Redundancy

Génétique humaine — session 3 page 28

06B.03APage 29Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsCodon Position Effects

Génétique humaine — session 3 page 29

06B.03APage 30Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsCodon Translation Poll

Génétique humaine — session 3 page 30

06B.03APage 31Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsSynonymous vs Non-Synonymous SNVs

Génétique humaine — session 3 page 31

06B.03APage 32Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsMissense SNVs

Génétique humaine — session 3 page 32

06B.03APage 33Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsConservative vs Non-Conservative

Génétique humaine — session 3 page 33

06B.03APage 34Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsSynonymous SNV Poll

Génétique humaine — session 3 page 34

06B.03APage 35Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsVariants & Phenotype

Génétique humaine — session 3 page 35

06B.03APage 36Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsNonsense SNVs

Génétique humaine — session 3 page 36

06B.03APage 37Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsReading Frames

Génétique humaine — session 3 page 37

06B.03APage 38Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsIndel Frameshift

Génétique humaine — session 3 page 38

06B.03APage 39Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsFrameshift Illustration

Génétique humaine — session 3 page 39

06B.03APage 40Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsFrameshift Poll

Génétique humaine — session 3 page 40

06B.03APage 41Clinical SignificanceB. Functional Impact1a. Coding Sequence VariantsInversion Impact

Génétique humaine — session 3 page 41

06B.03APage 42Clinical SignificanceB. Functional Impact1b. Splicing Alterations

Génétique humaine — session 3 page 42

06B.03APage 43Clinical SignificanceB. Functional Impact1b. Splicing AlterationsSplicing Mechanism

Génétique humaine — session 3 page 43

06B.03APage 44Clinical SignificanceB. Functional Impact1b. Splicing AlterationsBranch Point & Splice Sites

Génétique humaine — session 3 page 44

06B.03APage 45Clinical SignificanceB. Functional Impact1b. Splicing AlterationsGT–AG Splice Signals

Génétique humaine — session 3 page 45

06B.03APage 46Clinical SignificanceB. Functional Impact1b. Splicing AlterationsSplicing Defect Types

Génétique humaine — session 3 page 46

06B.03APage 47Clinical SignificanceB. Functional Impact1b. Splicing AlterationsCritical Splice Bases

Génétique humaine — session 3 page 47

06B.03APage 48Clinical SignificanceB. Functional Impact1c. Non-Coding Variants

Génétique humaine — session 3 page 48

06B.03APage 49Clinical SignificanceB. Functional Impact1c. Non-Coding VariantsRegulatory Variant Mechanism

Génétique humaine — session 3 page 49

06B.03APage 50Clinical SignificanceB. Functional Impact1c. Non-Coding VariantsTissue-Specific Expression

Génétique humaine — session 3 page 50

06B.03APage 51Clinical SignificanceB. Functional Impact1c. Non-Coding VariantsRegulatory Motif ON/OFF

Génétique humaine — session 3 page 51

06B.03APage 52Clinical SignificanceB. Functional Impact1c. Non-Coding VariantsTissue-Specific Transcription Table

Génétique humaine — session 3 page 52

06B.03APage 53Clinical SignificanceB. Functional Impact2. Larger Variant Impacts

Génétique humaine — session 3 page 53

06B.03APage 54Clinical SignificanceB. Functional Impact2a. CNV Impacts

Génétique humaine — session 3 page 54

06B.03APage 55Clinical SignificanceB. Functional Impact2a. CNV ImpactsCNV Position & Effect

Génétique humaine — session 3 page 55

06B.03APage 56Clinical SignificanceB. Functional Impact2a. CNV ImpactsSV-Caused Syndromes

Génétique humaine — session 3 page 56

06B.03APage 57Clinical SignificanceB. Functional Impact2b. Numerical Abnormalities

Génétique humaine — session 3 page 57

06B.03APage 58Clinical SignificanceB. Functional Impact2b. Numerical AbnormalitiesMonosomies & Trisomies

Génétique humaine — session 3 page 58

06B.03APage 59Clinical SignificanceB. Functional Impact2c. Translocations

Génétique humaine — session 3 page 59

06B.03APage 60Clinical SignificanceB. Functional Impact2c. TranslocationsBalanced vs Unbalanced

Génétique humaine — session 3 page 60

06B.03APage 61Clinical SignificanceB. Functional Impact2c. TranslocationsMeiotic Segregation

Génétique humaine — session 3 page 61

06B.03APage 62Clinical SignificanceBenign vs Pathogenic Recap

Génétique humaine — session 3 page 62

06B.03APage 63Clinical SignificanceGenetic Diagnosis Outcomes

Génétique humaine — session 3 page 63

06B.03APage 64Session 3 Objectives

Génétique humaine — session 3 page 64