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Keywords: Haplotype
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Journal Articles
Subject Area:
Genetics
Hum Hered (2013) 75 (1): 44–51.
Published Online: 07 May 2013
...Gie Ken-Dror; Steve E. Humphries; Fotios Drenos Although haplotypes can provide great insight into the complex relationships between functional polymorphisms at a locus, their use in modern association studies has been limited. This is due to our inability to directly observe haplotypes in studies...
Journal Articles
Subject Area:
Genetics
Hum Hered (2013) 74 (3-4): 153–164.
Published Online: 11 April 2013
... marker data were the foundation of most analyses. Genotype imputation used IVs to determine which sequence variants reside on the haplotype that co-segregates with the autism diagnosis. Together with a rare-allele frequency filter, we identified only one rare variant on the risk haplotype, illustrating...
Journal Articles
Subject Area:
Genetics
Hum Hered (2011) 72 (4): 289–297.
Published Online: 23 December 2011
... a haplotype tagging the chromosomal segment driving the linkage signal. Haplotype carriers are more likely to share the linked trait variant, and can be prioritized for subsequent DNA sequencing. 23 12 2011 © 2011 S. Karger AG, Basel 2011 Copyright / Drug Dosage / Disclaimer Copyright: All...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (1994) 44 (5): 241–247.
Published Online: 03 September 2008
... several closely linked markers, the amount of ‘information’ available can be significantly increased by establishing haplotypes from those loci; that is, haplotyping increases the number of heterozygotes at marker loci. Haplotyping can be problematic when more than one of the loci involved...
Journal Articles
Subject Area:
Genetics
Hum Hered (1995) 45 (1): 55–57.
Published Online: 03 September 2008
...T. Collazo; C. Magarino; R. Chavez; B. Suardiaz; S. Gispert; M. Gomez; M. Rojo; L. Heredero We tested the frequency of the ΔF508 mutation and haplotypes linked to the cystic fibrosis (CF) gene in Cuba. The ΔF508 deletion was detected in 34.0% of the CF chromosomes. There was a shortage of ΔF508...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (1992) 42 (4): 222–230.
Published Online: 02 September 2008
... of hereditary persistence of fetal hemoglobin. Subjects with less than 1.3% Hb A 2 , some of whom might be also carriers for δ-thalassemia determinants, had high G γ values (54–70%). Those homozygous for a sub-haplotype [+-----] 5’ to the δ-globin gene had low to mid G γ values (7–49%), while those homozygous...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (1988) 38 (5): 277–282.
Published Online: 02 September 2008
... with an isoelectric point between that of E3 and E4. As this variant lacks cysteine residues and has probably arisen from an E*4 allele, it is designated E4*. To gain further insight into the origin of the mutation, the haplotypes of the propositus were extended by restriction fragment length polymorphism (RFLP...
Journal Articles
Subject Area:
Genetics
Hum Hered (2007) 65 (3): 166–174.
Published Online: 16 October 2007
... on the summation of single test statistics or p values, giving greater weight to those with lower p values. We compared the powers of T C in identifying common trait loci, using tag SNPs within the same haplotype block that the trait loci reside, with competing published tests, in case-control settings...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (2007) 65 (1): 1–8.
Published Online: 25 July 2007
... ≧+1). Single locus and haplotype associations were performed using logistic regression with adjustment of age, height and weight. Results: The variant ‘G’ allele of rs2619112 was associated with a reduced risk of low BMD at the femoral neck in pre-menopausal women (OR = 0.442, p = 0.007...
Journal Articles
Subject Area:
Genetics
Hum Hered (2007) 64 (2): 97–106.
Published Online: 02 May 2007
... nucleotide polymorphisms (SNPs) and haplotypes, in different parts of the gene, have been reported to be associated in different samples, and a precise molecular mechanism of disease remains to be defined. We have performed an association study with two well-characterized family samples not previously...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (2007) 63 (3-4): 229–238.
Published Online: 07 March 2007
...-parent trio Conditional logistic regression Haplotype Original Paper Hum Hered 2007;63:229 238 DOI: 10.1159/000100481 Received: September 13, 2006 Accepted after revision: January 2, 2007 Published online: March 7, 2007 Dealing with Missing Data in Family-Based Association Studies: A Multiple...
Journal Articles
Subject Area:
Genetics
Hum Hered (2006) 61 (1): 55–64.
Published Online: 10 May 2006
... of varying minor allele frequency (MAF), and for haplotypic tests based on two markers with varying MAF and linkage disequilibrium (LD) measure r 2 . Results: We show that even with low genotyping error rates (<0.01), systematic differences in the error rate between samples can result in type I error...
Journal Articles
Subject Area:
Genetics
Hum Hered (2006) 61 (1): 31–44.
Published Online: 10 May 2006
... attention has recently been paid to methods for selecting the minimal informative subset of SNPs in identifying haplotypes, but there has been little investigation of the effect of missing or erroneous genotypes on the performance of these SNP selection algorithms and subsequent association tests using...
Journal Articles
Journal Articles
Subject Area:
Genetics
Hum Hered (2005) 59 (4): 201–209.
Published Online: 19 August 2005
...T.L. Bergemann; D.B. Clarkson Objectives: The question of interest is estimating the relationship between haplotypes and an outcome measure, based upon unphased genotypes. The outcome of interest might be predicting the presence of disease in a logistic model, predicting a numeric drug response...