Widespread structural variations in the human genome / Charles Lee.

Format:

Video

Author/Creator:

Lee, Charles, author.

Language:

English

Subjects (All):

Bioinformatics--Periodicals.

Bioinformatics.

Computational biology.

Physical Description:

1 videorecording (59 min., 04 sec.)

Place of Publication:

London : Henry Stewart Talks Ltd, 2007.

System Details:

video file

Summary:

Audio-visual presentation : Genetic differences and similarities between normal individuals ; Single Nucleotide Polymorphisms (SNPs) ; Structural variants in the human genome ; Comparative Genomic Hybridization (CGH) ; Clinical genetic diagnostics ; Copy Number Variation (CNV) ; Overlapping ; Large-scale variation ; CNVs in the human genome is probably underestimated ; Fine-scale structural variation of the human genome ; In silico computational strategy ; Holes in the human genome ; Common deletion polymorphisms ; International HapMap Project ; Genotyping failures ; Common/complex diseases ; Gene expression ; Implications of CNVs to genetic diagnostics ; Toward a global CNV map for the human genome ; Copy Number Variation Project ; CNVs in other mammalian species.

Contents:

Introduction

Genetic similarity between normal individuals

Genetic variation

Peripheral blood karyotype

M-FISH results on male infant

Rx-FISH results on male infant

Array CGH results on male infant

Comparative genomic hybridization (CGH)

Array CGH methodology

Spectral genomic inc. arrays

Sample preparation and data analysis

Clinical potential of array-CGH technology

Finding more imbalances than expected!

Controls

CNV - copy number variation

Potential sites of CNVs

Amylase gene locus

Number of copies of the amylase gene locus

Large-scale variation in the human genome

Underestimations of CNVs in the human genome

Structural variation of the human genome

In silico computational strategy

Sequence comparisons of 500,000 fosmid clones

Holes in the human genome (1)

Holes in the human genome (2)

International HapMap project (1)

Genotyping failures: Mendel failures

Genotyping failures: null genotypes

Genotyping failures: HW disequilibrium

"Failed" genotype assays

Common deletion variants ("haplosufficiency"?)

Database of genomic variants

CNVs and common/complex diseases

International HapMap project (2)

Gene expression at CNV loci

Low CCL3L1 - increased susceptibility to AIDS

Copy number polymorphism in Fcgr3

Patchwork people

SNP genotyping - often non-informative at CNV loci

Implications of CNVs to genetic diagnostics

What is normal?

The clinical importance of the definition of 'normal'

Pathogenic if de novo?

Some CNV regions have ethnic specificity

Mechanisms that may cause phenotypic variations

Inheritance of CNVs by array CGH assays (1)

Inheritance of CNVs by array CGH assays (2)

Genetic medicine

Toward a global CNV map

Copy number variation project

The whole genome tiling path BAC array

Number of copies observed

HapMap on Affymetrix 500k-EA

How many CNVs are truly out there?

CNVs in other mammalian species

Inbred mouse strains genomic polymorphism

CNVs in chimpanzees (Pan troglodytes)

CNVs in chimpanzees vs. CNVs in humans

CNV hotspots in humans and chimpanzees

Characterizing human genome structural variation

Acknowledgements.

Notes:

Description based on: online resource; title from PDF information screen (Henry Stewart Talks Business & Management Collection, viewed April 11, 2024).

Retrieved April 11, 2024, from https://hstalks.com/bs/480/.