Now showing items 1-10 of 439
A Geometric Framework for Evaluating Rare Variant Tests of Association
(Wiley Periodicals, Inc., 2013-05)
The wave of next‐generation sequencing data has arrived. However, many questions still remain about how to best analyze sequence data, particularly the contribution of rare genetic variants to human disease. Numerous ...
A radiation hybrid map of the proximal short arm of the human X chromosome spanning incontinentia pigmenti 1 (IP1) translocation breakpoints
(Elsevier, 1992-11)
Radiation hybrid mapping was used in combination with physical mapping techniques to order and estimate distances between 14 loci in the proximal region of the short arm of the human X chromosome. A panel of radiation ...
Identification of a single nucleotide change in a mutant gene for hypoxanthine-guanine phosphoribosyltransferase (HPRT Ann Arbor)
(Springer-Verlag, 1988-05)
HPRT Ann Arbor is a variant of hypoxanthine (guanine) phosphoribosyl-transferase (HPRT: EC 2.4.2.8), which was identified in two brothers with hyperuricemia and nephrolithiasis. In previous studies, this mutant enzyme was ...
Tests for gene-environment interaction from case-control data: a novel study of type I error, power and designs This article is a US government work, and, as such, is in the public domain in the United States of America.
(Wiley Subscription Services, Inc., A Wiley Company, 2008-11)
To evaluate the risk of a disease associated with the joint effects of genetic susceptibility and environmental exposures, epidemiologic researchers often test for non-multiplicative gene-environment effects from case-control ...
Using sex-averaged genetic maps in multipoint linkage analysis when identity-by-descent status is incompletely known
(Wiley Subscription Services, Inc., A Wiley Company, 2006-07)
The ratio of male and female genetic map distances varies dramatically across the human genome. Despite these sex differences in genetic map distances, most multipoint linkage analyses use sex-averaged genetic maps. We ...
Haplotype variation and genotype imputation in African populations
(Wiley Subscription Services, Inc., A Wiley Company, 2011-12)
Sub‐Saharan Africa has been identified as the part of the world with the greatest human genetic diversity. This high level of diversity causes difficulties for genome‐wide association (GWA) studies in African populations—for ...
Protein tyrosine phosphatases: characterization of extracellular and intracellular domains
(Elsevier, 1994-02)
Protein tyrosine phosphatases (PTPs) play an important role in the regulation of cell growth and differentiation. With over 30 PTPs identified, the specific functions of these enzymes are now being addressed. The identification ...
Improving power of association tests using multiple sets of imputed genotypes from distributed reference panels
(Wiley Periodicals, Inc., 2017-12)
The accuracy of genotype imputation depends upon two factors: the sample size of the reference panel and the genetic similarity between the reference panel and the target samples. When multiple reference panels are not ...
The cloned butyrylcholinesterase (BCHE) gene maps to a single chromosome site, 3q26
(Elsevier, 1991-10)
Human tissues have two distinct cholinesterase activities: acetylcholinesterase and butyrylcholinesterase. Acetylcholinesterase functions in the transmission of nerve impulses, whereas the physiological function of ...
Macronuclear persistence of sequences normally eliminated during development in Tetrahymena thermophila
(Wiley Subscription Services, Inc., A Wiley Company, 1985)
During conjugation in the ciliated protozoan, Tetrahymena thermophila , a somatic MAC-ronucleus develops from the germinal MICronucleus. Ten to 20 percent of the MIC genome is eliminated during this process. Three repetitive ...