Haplotype‐association analysis

N Liu, K Zhang, H Zhao - Advances in genetics, 2008 - Elsevier
Association methods based on linkage disequilibrium (LD) offer a promising approach for
detecting genetic variations that are responsible for complex human diseases. Although …

PedCheck: a program for identification of genotype incompatibilities in linkage analysis

JR O'Connell, DE Weeks - The American Journal of Human Genetics, 1998 - cell.com
Prior to performance of linkage analysis, elimination of all Mendelian inconsistencies in the
pedigree data is essential. Often, identification of erroneous genotypes by visual inspection …

OpenMendel: a cooperative programming project for statistical genetics

H Zhou, JS Sinsheimer, DM Bates, BB Chu… - Human Genetics, 2020 - Springer
Statistical methods for genome-wide association studies (GWAS) continue to improve.
However, the increasing volume and variety of genetic and genomic data make …

Meta-analysis of 13 genome scans reveals multiple cleft lip/palate genes with novel loci on 9q21 and 2q32-35

ML Marazita, JC Murray, AC Lidral… - The American Journal of …, 2004 - cell.com
Isolated or nonsyndromic cleft lip with or without cleft palate (CL/P) is a common birth defect
with a complex etiology. A 10-cM genome scan of 388 extended multiplex families with CL/P …

A molecular defect in loricrin, the major component of the cornified cell envelope, underlies Vohwinkel's syndrome

E Maestrini, AP Monaco, JA McGrath… - Nature …, 1996 - nature.com
Terminal keratinocyte differentiation involves coordinated expression of several functionally
interdependent genes, many of which have been mapped to the epidermal differentiation …

[HTML][HTML] Variation in the interleukin 4–receptor α gene confers susceptibility to asthma and atopy in ethnically diverse populations

C Ober, SA Leavitt, A Tsalenko, TD Howard… - The American Journal of …, 2000 - cell.com
After a genomewide screen in the Hutterites was completed, the IL4RA gene was examined
as the 16p-linked susceptibility locus for asthma and atopy. Seven known variants and one …

Genome-wide scan finds suggestive caries loci

AR Vieira, ML Marazita… - Journal of Dental …, 2008 - journals.sagepub.com
Here we report the first genome-wide scan performed for caries. Evidence from twin studies
suggests a genetic component to caries. We aimed to identify genetic factors contributing to …

A juvenile-onset, progressive cataract locus on chromosome 3q21-q22 is associated with a missense mutation in the beaded filament structural protein–2

YP Conley, D Erturk, A Keverline, TS Mah… - The American Journal of …, 2000 - cell.com
Juvenile-onset cataracts are distinguished from congenital cataracts by the initial clarity of
the lens at birth and the gradual development of lens opacity in the second and third …

HAPLORE: a program for haplotype reconstruction in general pedigrees without recombination

K Zhang, F Sun, H Zhao - Bioinformatics, 2005 - academic.oup.com
Motivation: Haplotype reconstruction is an essential step in genetic linkage and association
studies. Although many methods have been developed to estimate haplotype frequencies …

A genome wide linkage scan for cleft lip and palate and dental anomalies

AR Vieira, TG McHenry, S Daack‐Hirsch… - American Journal of …, 2008 - Wiley Online Library
We revisited 46 families with two or more siblings affected with an orofacial cleft that
participated in previous genome wide studies and collected complete dental information …