Fingerlin, Tasha E., Abecasis, GonÇalo R., Boehnke, Michael
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...
Haplotype association analysis for late onset diseases using nuclear family data (2006)
In haplotype-based association studies for late onset diseases, one attractive design is to use available unaffected spouses as controls (Valle et al. [1998] Diab. Care 21:949–958). Given cases and...
Tag SNP selection for Finnish individuals based on the CEPH Utah HapMap database (2006)
Willer, Cristen J., Scott, Laura J., Bonnycastle, Lori L., Jackson, Anne U., Chines, Peter S., Pruim, Randall, ...
The pattern and nature of linkage disequilibrium in the human genome is being studied and catalogued as part of the International HapMap Project [:2003 Nature 426:789–796]. A key goal of the HapMap...
Mitochondrial polymorphisms and susceptibility to type 2 diabetes-related traits in Finns (2005)
Chines, Peter S., Watanabe, Richard M., Boehnke, Michael, Buchanan, Thomas A., Conneely, Karen N., Narisu, Narisu, ...
Mitochondria play an integral role in ATP production in cells and are involved in glucose metabolism and insulin secretion, suggesting that variants in the mitochondrial genome may contribute to...
A locus for posterior polymorphous corneal dystrophy ( PPCD3 ) maps to chromosome 10 (2004)
Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Epstein, Michael P., Schteingart, Miriam T., Sugar, Alan, ...
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency...
Collins, Francis S., Bergman, Richard N., Watanabe, Richard M., Buchanan, Thomas A., Tuomilehto, Jaakko, Lazaridis, K. N., ...
Resistin is a peptide hormone produced by adipocytes that is present at high levels in sera of obese mice and may be involved in glucose homeostasis through regulation of insulin sensitivity. Several...
Skol, A.D., Young, K.A., Tsuang, D.W., Faraone, S.V., Haverstock, S.L., Bingham, S., ...
Wei and Hemmings [2000: Nat Genet 25:376–377], using 80 British parent–offspring trios, identified a number of NOTCH4 variants and haplotypes that showed statistically significant evidence of...
Hanna, Gregory L., Veenstra-VanderWeele, Jeremy, Cox, Nancy J., Boehnke, Michael, Himle, Joseph A., Curtis, George C., ...
The goal of this study was to identify chromosomal regions likely to contain susceptibility alleles for early-onset obsessive-compulsive disorder (OCD). A genome scan was done in 56 individuals from...
Lod scores for gene mapping in the presence of marker map uncertainty (2001)
Stringham, Heather M., Boehnke, Michael
Multipoint lod scores are typically calculated for a grid of locus positions, moving the putative disease locus across a fixed map of genetic markers. Changing the order of a set of markers and/or...
Nylund, S. J., Bergman, Richard N., Magnuson, V. L., Boehnke, Michael, Collins, Francis S., Valle, Timo T., ...
Recent studies have suggested an association between Type II (non-insulin-dependent) diabetes mellitus-related phenotypes and a cytosine-to-thymidine substitution that results in the replacement of...
Hauser, Elizabeth R., Boehnke, Michael, Guo, Sun-Wei, Risch, Neil
We describe an extension of Risch's [(1990a,b) Am J Hum Genet 46:222–228, 229–241] method of linkage detection and exclusion for complex genetic traits. The method uses interval mapping to infer...
Collins, Francis S., Boehnke, Michael, Chandrasekharappa, Settara C., Shearon, Tempie H., Ho, Peggy P., Couch, Fergus J., ...
The human homolog of the Saccharomyces cerevisiae cell division control 27 gene (CDC27) was mapped to human chromosome 17q12-q21 using a panel of human/rodent somatic cell hybrids and localized...
Boehnke, Michael, Hulbert-Shearon, Tempie
For a fully penetrant trait, apparent recombinants between the trait and marker loci result in an estimate of the recombination fraction θ > 0. Given allowance for reduced penetrance and/or sporadic...
Integrated Mapping Analysis of the Werner Syndrome Region of Chromosome 8 (1994)
Oshima, Junko, Yu, Chang-En, Boehnke, Michael, Weber, James L., Edelhoff, Susanne, Wagner, Michael J., ...
The Werner syndrome locus (WRN) is located at 8p11-p12. To facilitate eventual cloning of the WRN gene, a 10,000-rad radiation-reduced hybrid (RH) cell panel was generated to map genetic markers,...
Couch, Fergus J., Abel, Kenneth J., Brody, Lawrence C., Boehnke, Michael, Collins, Francis S., Weber, Barbara L.
The gene encoding ATP-citrate lyase, designated ACLY, was mapped to human chromosome 17q12-q21 by PCR on a panel of human/rodent somatic cell hybrids and localized to 17q21.1 by PCH on a panel of...
Lunetta, Kathryn L., Boehnke, Michael
There are several statistical methods available for analyzing radiation hybrid (RH) data, but little is known about the ordering accuracy we can expect under common study conditions. Using analytic...
Flejter, Wendy L., Barcroft, Christine L., Guo, Sun-Wei, Lynch, Eric D., Boehnke, Michael, Chandrasekharappa, Settara C., ...
A gene designated BRCA1, implicated in the susceptibility to early-onset familial breast cancer, has recently been localized to chromosome 17q12-q21. To date, the order of DNA markers mapped within...
A Radiation Hybrid Map of the BRCA1 Region of Chromosome 17q12-q21 (1993)
Abel, Kenneth J., Boehnke, Michael, Prahalad, Murali, Ho, Peggy P., Flejter, Wendy L., Watkins, Melanie, ...
The chromosomal region 17q12-q21 contains a gene (BRCA1) conferring susceptibility to early-onset familial breast and ovarian cancer. An 8000-rad radiation-reduced hybrid (RH) panel was constructed...
Frazer, Kelly A., Boehnke, Michael, Budarf, Marcia L., Wolff, Roger K., Emanuel, Beverly S., Myers, Richard M., ...
We describe a high-resolution radiation hybrid map of the region on human chromosome 22 containing the neurofibromatosis type 2 (NF2) gene. Eighty-five hamster--human somatic cell hybrids generated...
Gorski, Jerome L., Boehnke, Michael, Reyner, Eric L., Burright, Eric N.
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...
Radiation hybrid map spanning the huntington disease gene region of chromosome 4 (1992)
Altherr, Michael R., Altherr, Michael R., Plummer, Sarah, Plummer, Sarah, Bates, G., Bates, G., ...
Radiation hybrid (RH) mapping was used to construct a map of 11 markers in the distal 4 Mb of the short arm of chromosome 4, the region containing the Huntington disease gene. Two different methods...
Sowers, MaryFran R., Jannausch, Mary L., Corton, Genie, Burns, Trudy L., Crutchfield, Mary, Boehnke, Michael
The contributions of polygenic loci and environmental factors to femoral bone mineral density (BMD in g/cm 2 ) variability were estimated in modified family sets consisting of women of child-bearing...
Kwon, Jennifer M., Boehnke, Michael, Burns, Trudy L., Moll, Patricia Peyser
Commingling analysis is commonly used to provide preliminary evidence for a single genetic locus with a major effect on the quantitative trait of interest. In this paper, the effectiveness of...
Alternative genetic models for the inheritance of the phenylthiocarbamide taste deficiency (1989)
Olson, Jane M., Boehnke, Michael, Neiswanger, Katherine, Roche, Alex F., Siervogel, Roger M.
Pedigree segregation analysis was used to examine several one- and two-locus models of the inheritance of phenylthiocarbamide (PTC) taste deficiency that extend the traditional one-locus recessive...
Tarlo, K. S., Boehnke, Michael, Chin, Bruce
The effect of mixed mutagen exposures on the rate and type of induced mutants was studied in the L5178Y/TK+/- --> TK-/- mouse lymphoma cell mutagenicity assay. In this assay, exposure to ethyl...
Linkage analysis of von Recklinghausen neurofibromatosis to DNA markers on chromosome 17 (1987)
Diehl, Scott R., Boehnke, Michael, Erickson, Robert P., Baxter, A. B., Bruce, M. A., Lieberman, J. L., ...
Several recent studies indicate that the von Recklinghausen neurofibromatosis (NF1) gene is located near the centromere of chromosome 17 in some families. However, variable expressivity and a very...
Univariate and bivariate analyses of cholesterol and triglyceride levels in pedigrees (1986)
Boehnke, Michael, Moll, Patricia Peyser, Lange, Kenneth, Weidman, William H., Kottke, Bruce A.
A multivariate normal model for pedigree analysis is applied to fasting total serum cholesterol and total serum triglyceride measurements on 771 individuals in 95 pedigrees from Rochester, MN....
Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
Ghosh, Soumitra, Watanabe, Richard M., Hauser, Elizabeth R., Valle, Timo, Magnuson, Victoria L., Erdos, Michael R., ...
We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best...
Mohlke, Karen L., Erdos, Michael R., Scott, Laura J., Fingerlin, Tasha E., Jackson, Anne U., Silander, Kaisa, ...
To facilitate positional cloning of complex trait susceptibility loci, we are investigating methods to reduce the effort required to identify trait-associated alleles. We examined primer extension...
Linkage Disequilibrium Between Microsatellite Markers Extends Beyond 1 cM on Chromosome 20 in Finns
Mohlke, Karen L., Lange, Ethan M., Valle, Timo T., Ghosh, Soumitra, Magnuson, Victoria L., Silander, Kaisa, ...
Linkage disequilibrium (LD) is a proven tool for evaluating population structure and localizing genes for monogenic disorders. LD-based methods may also help localize genes for complex traits. We...
A Locus for Posterior Polymorphous Corneal Dystrophy (PPCD3) Maps to Chromosome 10
Shimizu, Satoko, Krafchak, Charles, Fuse, Nobuo, Epstein, Michael P., Schteingart, Miriam T., Sugar, Alan, ...
Posterior polymorphous corneal dystrophy (PPCD) is an autosomal dominant disorder characterized by corneal endothelial abnormalities, which can lead to blindness due to loss of corneal transparency...
A Multipoint Method for Detecting Genotyping Errors and Mutations in Sibling-Pair Linkage Data
Douglas, Julie A., Boehnke, Michael, Lange, Kenneth
The identification of genes contributing to complex diseases and quantitative traits requires genetic data of high fidelity, because undetected errors and mutations can profoundly affect linkage...
Ghosh, Soumitra, Watanabe, Richard M., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., Langefeld, Carl D., ...
We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score...
Watanabe, Richard M., Ghosh, Soumitra, Langefeld, Carl D., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., ...
Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes–related quantitative traits in 580...
Improved Inference of Relationship for Pairs of Individuals
Epstein, Michael P., Duren, William L., Boehnke, Michael
Linkage analyses of genetic diseases and quantitative traits generally are performed using family data. These studies assume the relationships between individuals within families are known correctly....
The Haplotype Runs Test: The Parent-Parent-Affected Offspring Trio Design
Lange, Ethan M., Boehnke, Michael
The increasing availability of maps of dense polymorphic markers makes use of haplotype data in family-based association analyses an attractive alternative to single marker association tests. We...
Krafchak, Charles M., Pawar, Hemant, Moroi, Sayoko E., Sugar, Alan, Lichter, Paul R., Mackey, David A., ...
Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in...
Li, Mingyao, Boehnke, Michael, Abecasis, Gonçalo R.
Linkage mapping of complex diseases is often followed by association studies between phenotypes and marker genotypes through use of case-control or family-based designs. Given fixed genotyping...
Quantitative Trait Linkage Analysis Using Gaussian Copulas
Li, Mingyao, Boehnke, Michael, Abecasis, Gonçalo R., Song, Peter X.-K.
Mapping and identifying variants that influence quantitative traits is an important problem for genetic studies. Traditional QTL mapping relies on a variance-components (VC) approach with the key...
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis
Chamberlain, Jeffrey S., Boehnke, Michael, Frank, Thomas S., Kiousis, Sam, Xu, Junxhe, Guo, Sun-Wei, ...
Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which...
How many polymorphic marker genes will it take to span the human genome?
Lange, Kenneth, Boehnke, Michael
It is desirable to know how many polymorphic marker loci will be required so that every human genetic locus can be mapped by classical pedigree methods to a specific region of a specific chromosome....
Type 2 diabetes: Evidence for linkage on chromosome 20 in 716 Finnish affected sib pairs
Ghosh, Soumitra, Watanabe, Richard M., Hauser, Elizabeth R., Valle, Timo, Magnuson, Victoria L., Erdos, Michael R., ...
We are conducting a genome scan at an average resolution of 10 centimorgans (cM) for type 2 diabetes susceptibility genes in 716 affected sib pairs from 477 Finnish families. To date, our best...
Mohlke, Karen L., Erdos, Michael R., Scott, Laura J., Fingerlin, Tasha E., Jackson, Anne U., Silander, Kaisa, ...
To facilitate positional cloning of complex trait susceptibility loci, we are investigating methods to reduce the effort required to identify trait-associated alleles. We examined primer extension...
Linkage Disequilibrium Between Microsatellite Markers Extends Beyond 1 cM on Chromosome 20 in Finns
Mohlke, Karen L., Lange, Ethan M., Valle, Timo T., Ghosh, Soumitra, Magnuson, Victoria L., Silander, Kaisa, ...
Linkage disequilibrium (LD) is a proven tool for evaluating population structure and localizing genes for monogenic disorders. LD-based methods may also help localize genes for complex traits. We...
Ascertainment-Adjusted Parameter Estimates Revisited
Epstein, Michael P., Lin, Xihong, Boehnke, Michael
Ascertainment-adjusted parameter estimates from a genetic analysis are typically assumed to reflect the parameter values in the original population from which the ascertained data were collected....
Douglas, Julie A., Skol, Andrew D., Boehnke, Michael
Gene-mapping studies routinely rely on checking for Mendelian transmission of marker alleles in a pedigree, as a means of screening for genotyping errors and mutations, with the implicit assumption...
A Tobit Variance-Component Method for Linkage Analysis of Censored Trait Data
Epstein, Michael P., Lin, Xihong, Boehnke, Michael
Variance-component (VC) methods are flexible and powerful procedures for the mapping of genes that influence quantitative traits. However, traditional VC methods make the critical assumption that the...
Li, Chun, Scott, Laura J., Boehnke, Michael
To fine map genes, investigators often test for disease-marker association in chromosomal regions with evidence for linkage. Given a marker allele tentatively associated with disease, one would ask...
Fingerlin, Tasha E., Boehnke, Michael, Abecasis, Gonçalo R.
Case-control disease-marker association studies are often used in the search for variants that predispose to complex diseases. One approach to increasing the power of these studies is to enrich the...
Joint Modeling of Linkage and Association: Identifying SNPs Responsible for a Linkage Signal
Li, Mingyao, Boehnke, Michael, Abecasis, Gonçalo R.
Once genetic linkage has been identified for a complex disease, the next step is often association analysis, in which single-nucleotide polymorphisms (SNPs) within the linkage region are genotyped...
Skol, Andrew D., Xiao, Rui, Boehnke, Michael
We present a simple algorithm that uses self-reported ethnicity information, pedigree structure, and affection status to group families into genetically more homogeneous subsets. This algorithm...
Krafchak, Charles M., Pawar, Hemant, Moroi, Sayoko E., Sugar, Alan, Lichter, Paul R., Mackey, David A., ...
Posterior polymorphous corneal dystrophy (PPCD, also known as PPMD) is a rare disease involving metaplasia and overgrowth of corneal endothelial cells. In patients with PPCD, these cells manifest in...
A Multipoint Method for Detecting Genotyping Errors and Mutations in Sibling-Pair Linkage Data
Douglas, Julie A., Boehnke, Michael, Lange, Kenneth
The identification of genes contributing to complex diseases and quantitative traits requires genetic data of high fidelity, because undetected errors and mutations can profoundly affect linkage...
Ghosh, Soumitra, Watanabe, Richard M., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., Langefeld, Carl D., ...
We performed a genome scan at an average resolution of 8 cM in 719 Finnish sib pairs with type 2 diabetes. Our strongest results are for chromosome 20, where we observe a weighted maximum LOD score...
Watanabe, Richard M., Ghosh, Soumitra, Langefeld, Carl D., Valle, Timo T., Hauser, Elizabeth R., Magnuson, Victoria L., ...
Type 2 diabetes mellitus is a complex disorder encompassing multiple metabolic defects. We report results from an autosomal genome scan for type 2 diabetes–related quantitative traits in 580...
Improved Inference of Relationship for Pairs of Individuals
Epstein, Michael P., Duren, William L., Boehnke, Michael
Linkage analyses of genetic diseases and quantitative traits generally are performed using family data. These studies assume the relationships between individuals within families are known correctly....
Li, Mingyao, Boehnke, Michael, Abecasis, Gonçalo R.
Linkage mapping of complex diseases is often followed by association studies between phenotypes and marker genotypes through use of case-control or family-based designs. Given fixed genotyping...
Quantitative Trait Linkage Analysis Using Gaussian Copulas
Li, Mingyao, Boehnke, Michael, Abecasis, Gonçalo R., Song, Peter X.-K.
Mapping and identifying variants that influence quantitative traits is an important problem for genetic studies. Traditional QTL mapping relies on a variance-components (VC) approach with the key...
BRCA1 maps proximal to D17S579 on chromosome 17q21 by genetic analysis
Chamberlain, Jeffrey S., Boehnke, Michael, Frank, Thomas S., Kiousis, Sam, Xu, Junxhe, Guo, Sun-Wei, ...
Previous studies have demonstrated linkage between early-onset breast cancer and ovarian cancer and genetic markers on chromosome 17q21. These markers define the location of a gene (BRCA1) which...
How many polymorphic marker genes will it take to span the human genome?
Lange, Kenneth, Boehnke, Michael
It is desirable to know how many polymorphic marker loci will be required so that every human genetic locus can be mapped by classical pedigree methods to a specific region of a specific chromosome....
Diehl, Scott R., Boehnke, Michael, Erickson, Robert P., Ploughman, Lynn M., Seiler, Kathleen A., Lieberman, Janice L., ...
The von Recklinghausen neurofibromatosis (NF1) gene has been mapped to the pericentromeric region of chromosome 17. We conducted linkage analyses of NF1 by using 10 polymorphic DNA markers from this...