Introduction to Contemporary Genetic Analysis 2008

Submitted: Friday 11th of September 2009 02:11:36 PM
Submitted by: egf
Language: English
Educational levels: No level assigned

Abstract

The Introduction to Contemporary Genetics Analysis that opened the first day of the 21st course in Medical Genetics. Contains three lectures and a video by: D. Donnai : Medical Genetics Today (Presentation and Video), E. Maestrini: Linkage Analysis, H. Brunner: Genotypes and Phenotypes

Resources

n/a
Medical Genetics today is built on a distinguished history of clinical, scientific and technological contributions. Over the 55 years since the discovery of the structure of DNA and the ~ 40 years since the introduction of chromosome analysis for diagnostic purposes an increasing range of services h ...
Linkage analysis is a powerful method for the localization and subsequent identification of disease genes. Through linkage analysis it is possible to identify a disease locus without prior knowledge about the molecular mechanisms involved in the disease process. This strategy is known as positional ...
Much of human and medical genetics concerns the relationships that exist between human genes, the variation and mutations that occur within these genes, and the phenotypes that result from these mutations. At least 5000 human phenotypes have been documented in the Online catalogue of Mendelian Inher ...

Similar resources


Loading ...

IMS Metadata

Keywords

abnormal, additive, affected, algorithm, allele, apoptosis, association, association studies, autosomal dominant, autosomal recessive, BRCA, cancer genetics, carrier, case-control, cell, centimorgan, chromosome, chromosome translocation, cloning, coding sequence, common cancers, common disease, congenital, correlation, cystic fibrosis transmembrane conductance regulator, deletion, deoxyribonucleic acid, dna polymorphisms, dna repair, domain, double heterozygote, dysplasia, dystrophin, embryo, environmental factor, enzyme, exon, expansion, expectation maximization algorithm, expression, familial, fixed, frameshift, frequency, gamete, gene, gene therapy, genetic counselling, genetic disease, genetic heterogeneity, genetic mapping, genetic marker, genetic register, geneticist, genetics, genome, genome wide association, genotype, genotyping, haplotype, haplotype analysis, hapmap project, hereditary, heredity, heterogeneity, heterogeneous, heterozygous, high throughput, homologous chromosome, hydrocephalus, identity by descent, imprinting, incomplete penetrance, inherited, intron, kilobase, linkage, linkage analysis, linkage disequilibrium, linkage mapping, locus, lod score, malformation, mapping function, marker, maturity onset diabetes of the young, maximum lod score, meiosis, mendelian disorder, metabolism, microsatellite, mode of inheritance, monogenic, monogenic disease, multipoint, mutation, neurofibromin, parental, pedigree, penetrance, pharmacogenetics, phase, phase unknown, phenotype, polymorphism, population, positional candidate gene, positional cloning, power, predictive testing, predisposing mutation, probability, proband, protein, random assortment, recessive, recombinant, recombination, recombination fraction, reduced penetrance, replication, restriction fragment length polymorphism, screening, segregation, sib, single nucleotide polymorphism, sonic hedgehog, sporadic, survival, syndrome, tandem repeat, threshold, trait, unaffected, variant, variation, wildtype

Rating

0

Terms of use

This work is licensed under a Creative Commons Attribution-Noncommercial-Share Alike 3.0 Unported License. Read more.

sfy39587f01