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Haplotype‐association analysis
Association methods based on linkage disequilibrium (LD) offer a promising approach for
detecting genetic variations that are responsible for complex human diseases. Although …
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 …
pedigree data is essential. Often, identification of erroneous genotypes by visual inspection …
OpenMendel: a cooperative programming project for statistical genetics
Statistical methods for genome-wide association studies (GWAS) continue to improve.
However, the increasing volume and variety of genetic and genomic data make …
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
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 …
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
Terminal keratinocyte differentiation involves coordinated expression of several functionally
interdependent genes, many of which have been mapped to the epidermal differentiation …
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
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 …
as the 16p-linked susceptibility locus for asthma and atopy. Seven known variants and one …
Genome-wide scan finds suggestive caries loci
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 …
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 …
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
Motivation: Haplotype reconstruction is an essential step in genetic linkage and association
studies. Although many methods have been developed to estimate haplotype frequencies …
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 …
participated in previous genome wide studies and collected complete dental information …