ESGM 1st Course on Molecular and Statistical Genetics of Consanguinity

Submitted: Friday 6th of July 2012 10:25:28 AM
Submitted by: egf
Language: English
Educational levels: qc2, qc3

Abstract

Consanguinity, that is the practice to get married between closely related individuals, is still a common habit in many regions of the world.

Resources

Classical studies of consanguinity have taken advantage of the relationship between the gene frequency for a rare autosomal recessive disorder (q) and the proportion of offspring of consanguineous couples who are affected with the same disorder. We developed a new approach for estimating q using mut ...
Close kin relationships have a long history in human populations, as evidenced in modern Western societies by the genomic evidence of extensive runs of homozygosity (ROH) resulting from consanguineous unions in much earlier generations. Estimates of the numbers of mature adults who took part in the ...
Studies into the influence of consanguinity on intellectual performance have produced quite varied results. In a small-scale USA study no significant effect was observed with respect to mean IQ but there was a significantly higher standard deviation in the IQ scores of first cousin progeny, which ra ...
Two individuals are (biologically) related if they share a common ancestor. In that case they may have derived regions of their chromosomes from a common ancestral chromosomes and thus they will, in the absence of mutations, have the same genetic material across these regions. We begin by consideri ...
Genome-Wide Association Studies (GWAS) is a powerful tool for identifying loci involved in the control of complex traits. In most GWAS, study participants are assumed to be unrelated and coming from a single population. However, even for carefully designed studies, some degree of relatedness and pop ...
Current biomedical research is experiencing a large boost in the amount of data generated. Individual genomes are being characterized at increased level of details using single nucleotide polymorphism (SNP) arrays, and, more recently, exome and whole-genome re-sequencing (WGRS). At the same time, te ...
Current biomedical research is experiencing a large boost in the amount of data generated. Individual genomes are being characterized at increased level of details using single nucleotide polymorphism (SNP) arrays, and, more recently, exome and whole-genome re-sequencing (WGRS). At the same time, te ...
Taybi-Linder syndrome/MOPD1 [OMIM 210710] is a rare recessive disorder characterized by brain and bone malformations and unexplained postnatal death. Only a small sample of patients without well-characterized consanguinity was available for study. Because genealogical information was unreliable, th ...

Similar resources


Loading ...

IMS Metadata

Keywords

additive, admixture, affected, algorithm, allele, allele frequency, Analysis of the entire coding region: Sequence analysis, association, assortative mating, autism, autosomal, autosomal recessive, autozygosity, base, beta, carrier, cell, cell line, centimorgan, chromosome, chromosome abnormality, comparative genomics, complex inheritance, compound heterozygote, confounder, congenital, consanguineous, consanguineous marriage, consanguinity, correlation, covariance, degeneracy, deletion, deoxyribonucleic acid, disjunction, disruption, drift, dysplasia, exon, expression, familial, fc, fibroblast, fixed, founder, founder effect, frameshift, frequency, gene, gene locus, gene pool, genetic counselling, genetic counsellor, genetic disease, genetic isolates, genetic marker, genetic variation, geneticist, genetics, genome, genome wide association, genomic dna, genomics, genotype, genotyping, haplotype, hereditary, heredity, heritability, heterogeneity, heterozygote, heterozygous, high throughput, homogeneity, homozygote, homozygous, hybrid, hybridization, hydrocephalus, ibs, identity by descent, inbreeding, incest, incidence, indels, inherited, insertion, intron, isolate, karyotype, kilobase, linkage, linkage analysis, linkage disequilibrium, locus, lod score, long interspersed nuclear element, malformation, marker, maternal, merlin, microsatellite, minor allele frequency, mixed model, molecular genetics, multivariate, mutation, neural tube, new mutation, nonsense mutation, nuclear family, parental, pedigree, phenotype, point mutation, polygenic, polymerase chain reaction, population, population genetics, population isolate, power, prevalence, probability, proband, prometaphase, prophase, protein, quantitative, quantitative trait, random mating, recessive, recessive allele, recessive gene, recombination, regression, reverse transriptase pcr, ribonucleic acid, screening, segregation, selection, sequence, sex chromosome, sex ratio, sib, single nucleotide polymorphism, small nuclear rna, specie, specificity, splice site, spliceosome, splicing, stillbirth, survival, switching, syndrome, test statistics, threshold, trait, transition, triplet, trisomy, unaffected, untranslated region, variable expressivity, variance, variant, variation, vector

Rating

0

Terms of use

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

sfy39587f01