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Family-based tests of linkage disequilibrium typically are based on nuclear-family data including affected individuals and their parents or their unaffected siblings. A limitation of such tests is that they generally are not valid tests of association when data from related nuclear families from larger pedigrees are used. Standard methods require selection(More)
To the Editor: Recently, we proposed the pedigree disequilibrium test (PDT) as a test for allelic association and linkage (linkage disequilibrium) in general pedigrees (Martin et al. 2000). We have discovered that, in certain cases in extended pedigrees, the PDT can be biased under the null hypothesis. In this letter we describe the nature of the bias and(More)
MOTIVATION Next-generation sequencing presents several statistical challenges, with one of the most fundamental being determining an individual's genotype from multiple aligned short read sequences at a position. Some simple approaches for genotype calling apply fixed filters, such as calling a heterozygote if more than a specified percentage of the reads(More)
BACKGROUND Movement towards evidence-based practices in many fields suggests that public health (PH) challenges may be better addressed if credible information about health risks and effective PH practices is readily available. However, research has shown that many PH information needs are unmet. In addition to reviewing relevant literature, this study(More)
  • Mary E Piorun, Donna Kafel, Tracey Leger-Hornby, Siamak Najafi, Elaine R Martin, Paul Colombo +4 others
  • 2014
With funding from the Institute of Museum and Library Services, the Libraries of the University of Massachusetts Medical School and Worcester Polytechnic Institute collaborated on a plan to expand the scope of science library practices and promote among medical, graduate, and undergraduate science students the preservation of scientific data in relevant(More)
We have developed a software package, SIMLA (simulation of linkage and association), which can be used to generate pedigree data under user-specified conditions. The number and location of disease loci, disease penetrances, marker locations, and marker disequilibrium with a disease locus and with other markers can be controlled. In addition, the pedigree(More)
Purpose: The purpose of this study was to evaluate health sciences and science and technology librarians' needed data curation and management (DCM) competencies to support nascent and future patron and institutional eScience research endeavors. The data from this research will be used to align a data curation and management curriculum with the educational(More)
Introduction This study focuses on sixteen New England medical and biomedical libraries and their plans for developing research data services. Health and science librarians are very interested in providing these types of services but have faced many barriers in funding, personnel and institutional support. Results of this survey show few of these libraries(More)