Kenneth H. Buetow

PID: the Pathway Interaction Database (2009)

Schaefer, Carl F., Anthony, Kira, Krupa, Shiva, Buchoff, Jeffrey, Day, Matthew, Hannay, Timo, ...

The Pathway Interaction Database (PID, http://pid.nci.nih.gov) is a freely available collection of curated and peer-reviewed pathways composed of human molecular signaling and regulatory events and...

PID: The Pathway Interaction Database (2008)

Carl F. Schaefer, Kira Anthony, Shiva Krupa, Jeffrey Buchoff, Matthew Day, Timo Hannay, ...

The Pathway Interaction Database (PID, "http://pid.nci.nih.gov":http://pid.nci.nih.gov) is a freely available collection of curated and peer-reviewed pathways composed of human molecular...

Systematic analysis of genetic alterations in tumors using Cancer Genome WorkBench (CGWB) (2007)

Zhang, Jinghui, Finney, Richard P., Rowe, William, Edmonson, Michael, Yang, Sei Hoon, Dracheva, Tatiana, ...

Systematic investigations of genetic changes in tumors are expected to lead to greatly improved understanding of cancer etiology. To meet the analytical challenges presented by such studies, we...

Allele-Specific Chromatin Immunoprecipitation Studies Show Genetic Influence on Chromatin State in Human Genome (2007)

Mitsutaka Kadota, Howard H. Yang, Nan Hu, Chaoyu Wang, Ying Hu, Philip R. Taylor, ...

Several recent studies have shown a genetic influence on gene expression variation, including variation between the two chromosomes within an individual and variation between individuals at the...

Genome-wide loss of heterozygosity and copy number alteration in esophageal squamous cell carcinoma using the Affymetrix GeneChip Mapping 10 K array (2006)

Hu, Nan, Wang, Chaoyu, Hu, Ying, Yang, Howard H, Kong, Li-Hui, Lu, Ning, ...

Abstract Background Esophageal squamous cell carcinoma (ESCC) is a common malignancy worldwide. Comprehensive genomic characterization of ESCC will further our understanding of the carcinogenesis...

SNPdetector: A Software Tool for Sensitive and Accurate SNP Detection (2005)

Jinghui Zhang, David A. Wheeler, Imtiaz Yakub, Sharon Wei, Raman Sood, William Rowe, ...

Identification of single nucleotide polymorphisms (SNPs) and mutations is important for the discovery of genetic predisposition to complex diseases. PCR resequencing is the method of choice for de...

Cyberinfrastructure: Empowering a ”Third Way (2005)

Kenneth H. Buetow

Biomedicine has experienced explosive growth, fueled in parts by the substantial increase of government support, continued development of the biotechnology industry, and the increasing adoption of...

A high-resolution multistrain haplotype analysis of laboratory mouse genome reveals three distinctive genetic variation patterns (2005)

Zhang, Jinghui, Hunter, Kent W., Gandolph, Michael, Rowe, William L., Finney, Richard P., Kelley, Jenny M., ...

Understanding of the structure and the origin of genetic variation patterns in the laboratory inbred mouse provides insight into the utility of the mouse model for studying human complex diseases and...

ATG deserts define a novel core promoter subclass (2005)

Lee, Maxwell P., Howcroft, Kevin, Kotekar, Aparna, Yang, Howard H., Buetow, Kenneth H., Singer, Dinah S.

The MHC class I gene, PD1, has neither functional TATAA nor Initiator (Inr) elements in its core promoter and initiates transcription at multiple, dispersed sites over an extended region in vitro....

Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms (2004)

Clifford, Robert J., Edmonson, Michael N., Nguyen, Cu, Buetow, Kenneth H.

Motivation: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variant in humans. SNPs causing amino acid substitutions are of particular interest as candidates for loci...

Large-scale analysis of non-synonymous coding region single nucleotide polymorphisms (2004)

Clifford, Robert J., Edmonson, Michael N., Nguyen, Cu, Buetow, Kenneth H.

Motivation: Single nucleotide polymorphisms (SNPs) are the most common form of genetic variant in humans. SNPs causing amino acid substitutions are of particular interest as candidates for loci...

Computational analysis and experimental validation of tumor-associated alternative RNA splicing in human cancer (2003)

Zhining Wang, H. Shuen Lo, Howard Yang, Sheryl Gere, Ying Hu, Kenneth H. Buetow, ...

A genome-wide computational screen was performed to identify tumorassociated alternative RNA splicing isoforms. A BLAST algorithm was used to compare 11,014 genes from RefSeq with 3,471,822 human...

Multiple Cross and Inbred Strain Haplotype Mapping of Complex-Trait Candidate Genes (2003)

Park, Yeong-Gwon, Clifford, Robert, Buetow, Kenneth H., Hunter, Kent W.

Identifying complex-trait candidate genes after initial low-resolution mapping has proven to be a difficult and labor-intensive undertaking, usually requiring years to develop and analyze congenic...

caCORE: A common infrastructure for cancer informatics (2003)

Covitz, Peter A., Hartel, Frank, Schaefer, Carl, De Coronado, Sherri, Fragoso, Gilberto, Sahni, Himanso, ...

Motivation:Sites with substantive bioinformatics operations are challenged to build data processing and delivery infrastructure that provides reliable access and enables data integration. Locally...

Allelic Variation in Gene Expression Is Common in the Human Genome (2003)

Lo, H. Shuen, Wang, Zhining, Hu, Ying, Yang, Howard H., Gere, Sheryl, Buetow, Kenneth H., ...

Variations in gene sequence and expression underlie much of human variability. Despite the known biological roles of differential allelic gene expression resulting from X-chromosome inactivation and...

HapScope: a software system for automated and visual analysis of functionally annotated haplotypes (2002)

Zhang, Jinghui, Rowe, William L., Struewing, Jeffery P., Buetow, Kenneth H.

We have developed a software analysis package, HapScope, which includes a comprehensive analysis pipeline and a sophisticated visualization tool for analyzing functionally annotated haplotypes. The...

Survey of trinucleotide repeats in the human genome: assessment of their utility as genetic markers (1995)

Gastier, Julie M., Pulido, Jacqueline C., Sunden, Sara, Brody, Thomas, Buetow, Kenneth H., Murray, Jeffrey C., ...

Genetic markers based upon PCR amplification of short tandem repeat-containing sequence tagged sites (STSs) have become the standard for genetic mapping. We have completed a survey based on the...

A collection of tri- and tetranucleotide repeat markers used to generate high quality, high resolution human genome-wide linkage maps (1995)

Sheffield, Val. C., Weber, James L., Buetow, Kenneth H., Murray, Jeffrey C., Even, Dee Ann, Wiles, Kerry, ...

We report a collection of tri- and tetranucleotide repeat sequence polymorphic markers used to construct genome-wide human linkage maps. Using a strategy of marker selection to create libraries...

A combined genetic and radiation hybrid map surrounding the Treacher Collins syndrome locus on chromosome 5q (1993)

Loftus, Stacie K., Edwards, Sara J., Scherpbier-Heddema, Titia, Buetow, Kenneth H., Wasmuth, John J., Dixon, Michael J.

The distal region of chromosome 5q contains a large number of genes, including those implicated in a variety of Mendelian disorders. One of these, Treacher Collins syndrome (TCOF1), is an autosomal...

High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Buetow, Kenneth H., Edmonson, Michael, MacDonald, Richard, Clifford, Robert, Yip, Ping, Kelley, Jenny, ...

We describe here a system for the rapid identification, assay development, and characterization of gene-based single nucleotide polymorphisms (SNPs). This system couples informatics tools that mine...

Interleukin 9: A candidate gene for asthma

Nicolaides, Nicholas C., Holroyd, Kenneth J., Ewart, Susan L., Eleff, Scott M., Kiser, Matthew B., Dragwa, Carl R., ...

Asthma is a complex heritable inflammatory disorder of the airways associated with clinical signs of atopy and bronchial hyperresponsiveness. Recent studies localized a major gene for asthma to...

An anatomy of normal and malignant gene expression

Boon, Kathy, Osório, Elisson C., Greenhut, Susan F., Schaefer, Carl F., Shoemaker, Jennifer, Polyak, Kornelia, ...

A gene's expression pattern provides clues to its role in normal physiology and disease. To provide quantitative expression levels on a genome-wide scale, the Cancer Genome Anatomy Project (CGAP)...

HapScope: a software system for automated and visual analysis of functionally annotated haplotypes

Zhang, Jinghui, Rowe, William L., Struewing, Jeffery P., Buetow, Kenneth H.

We have developed a software analysis package, HapScope, which includes a comprehensive analysis pipeline and a sophisticated visualization tool for analyzing functionally annotated haplotypes. The...

Long-Range Heterogeneity at the 3′ Ends of Human mRNAs

Iseli, Christian, Stevenson, Brian J., De Souza, Sandro J., Samaia, Helena B., Camargo, Anamaria A., Buetow, Kenneth H., ...

The publication of a draft of the human genome and of large collections of transcribed sequences has made it possible to study the complex relationship between the transcriptome and the genome. In...

Expression-based Genetic/Physical Maps of Single-Nucleotide Polymorphisms Identified by the Cancer Genome Anatomy Project

Clifford, Robert, Edmonson, Michael, Hu, Ying, Nguyen, Cu, Scherpbier, Titia, Buetow, Kenneth H.

SNPs (Single-Nucleotide Polymorphisms), the most common DNA variant in humans, represent a valuable resource for the genetic analysis of cancer and other illnesses. These markers may be used in a...

Allelic Variation in Gene Expression Is Common in the Human Genome

Lo, H. Shuen, Wang, Zhining, Hu, Ying, Yang, Howard H., Gere, Sheryl, Buetow, Kenneth H., ...

Variations in gene sequence and expression underlie much of human variability. Despite the known biological roles of differential allelic gene expression resulting from X-chromosome inactivation and...

Multiple Cross and Inbred Strain Haplotype Mapping of Complex-Trait Candidate Genes

Park, Yeong-Gwon, Clifford, Robert, Buetow, Kenneth H., Hunter, Kent W.

Identifying complex-trait candidate genes after initial low-resolution mapping has proven to be a difficult and labor-intensive undertaking, usually requiring years to develop and analyze congenic...

A high-resolution multistrain haplotype analysis of laboratory mouse genome reveals three distinctive genetic variation patterns

Zhang, Jinghui, Hunter, Kent W., Gandolph, Michael, Rowe, William L., Finney, Richard P., Kelley, Jenny M., ...

Understanding of the structure and the origin of genetic variation patterns in the laboratory inbred mouse provides insight into the utility of the mouse model for studying human complex diseases and...

ATG deserts define a novel core promoter subclass

Lee, Maxwell P., Howcroft, Kevin, Kotekar, Aparna, Yang, Howard H., Buetow, Kenneth H., Singer, Dinah S.

The MHC class I gene, PD1, has neither functional TATAA nor Initiator (Inr) elements in its core promoter and initiates transcription at multiple, dispersed sites over an extended region in vitro....

SNPdetector: A Software Tool for Sensitive and Accurate SNP Detection

Zhang, Jinghui, Wheeler, David A, Yakub, Imtiaz, Wei, Sharon, Sood, Raman, Rowe, William, ...

Identification of single nucleotide polymorphisms (SNPs) and mutations is important for the discovery of genetic predisposition to complex diseases. PCR resequencing is the method of choice for de...

A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates

Buetow, Kenneth H., Shiang, Rita, Yang, Ping, Nakamura, Yusuke, Lathrop, G. Mark, White, Raymond, ...

Utilizing the CEPH reference panel and genotypic data for 53 markers, we have constructed a 20-locus multipoint genetic map of human chromosome 4. New RFLPs are reported for four loci. The map...

Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27

Murray, Jeffrey C., Buetow, Kenneth H., Donovan, Mark, Hornung, Sigrid, Motulsky, Arno G., Disteche, Christine, ...

Linkage disequilibrium was observed between newly identified DNA polymorphisms and a previously described protein polymorphism for plasminogen. This finding implies that the two types of...

High-throughput development and characterization of a genomewide collection of gene-based single nucleotide polymorphism markers by chip-based matrix-assisted laser desorption/ionization time-of-flight mass spectrometry

Buetow, Kenneth H., Edmonson, Michael, MacDonald, Richard, Clifford, Robert, Yip, Ping, Kelley, Jenny, ...

We describe here a system for the rapid identification, assay development, and characterization of gene-based single nucleotide polymorphisms (SNPs). This system couples informatics tools that mine...

Interleukin 9: A candidate gene for asthma

Nicolaides, Nicholas C., Holroyd, Kenneth J., Ewart, Susan L., Eleff, Scott M., Kiser, Matthew B., Dragwa, Carl R., ...

Asthma is a complex heritable inflammatory disorder of the airways associated with clinical signs of atopy and bronchial hyperresponsiveness. Recent studies localized a major gene for asthma to...

An anatomy of normal and malignant gene expression

Boon, Kathy, Osório, Elisson C., Greenhut, Susan F., Schaefer, Carl F., Shoemaker, Jennifer, Polyak, Kornelia, ...

A gene's expression pattern provides clues to its role in normal physiology and disease. To provide quantitative expression levels on a genome-wide scale, the Cancer Genome Anatomy Project (CGAP)...

HapScope: a software system for automated and visual analysis of functionally annotated haplotypes

Zhang, Jinghui, Rowe, William L., Struewing, Jeffery P., Buetow, Kenneth H.

We have developed a software analysis package, HapScope, which includes a comprehensive analysis pipeline and a sophisticated visualization tool for analyzing functionally annotated haplotypes. The...

Long-Range Heterogeneity at the 3′ Ends of Human mRNAs

Iseli, Christian, Stevenson, Brian J., De Souza, Sandro J., Samaia, Helena B., Camargo, Anamaria A., Buetow, Kenneth H., ...

The publication of a draft of the human genome and of large collections of transcribed sequences has made it possible to study the complex relationship between the transcriptome and the genome. In...

Expression-based Genetic/Physical Maps of Single-Nucleotide Polymorphisms Identified by the Cancer Genome Anatomy Project

Clifford, Robert, Edmonson, Michael, Hu, Ying, Nguyen, Cu, Scherpbier, Titia, Buetow, Kenneth H.

SNPs (Single-Nucleotide Polymorphisms), the most common DNA variant in humans, represent a valuable resource for the genetic analysis of cancer and other illnesses. These markers may be used in a...

Allelic Variation in Gene Expression Is Common in the Human Genome

Lo, H. Shuen, Wang, Zhining, Hu, Ying, Yang, Howard H., Gere, Sheryl, Buetow, Kenneth H., ...

Variations in gene sequence and expression underlie much of human variability. Despite the known biological roles of differential allelic gene expression resulting from X-chromosome inactivation and...

Multiple Cross and Inbred Strain Haplotype Mapping of Complex-Trait Candidate Genes

Park, Yeong-Gwon, Clifford, Robert, Buetow, Kenneth H., Hunter, Kent W.

Identifying complex-trait candidate genes after initial low-resolution mapping has proven to be a difficult and labor-intensive undertaking, usually requiring years to develop and analyze congenic...

A high-resolution multistrain haplotype analysis of laboratory mouse genome reveals three distinctive genetic variation patterns

Zhang, Jinghui, Hunter, Kent W., Gandolph, Michael, Rowe, William L., Finney, Richard P., Kelley, Jenny M., ...

Understanding of the structure and the origin of genetic variation patterns in the laboratory inbred mouse provides insight into the utility of the mouse model for studying human complex diseases and...

Genomewide Distribution of High-Frequency, Completely Mismatching SNP Haplotype Pairs Observed To Be Common across Human Populations

Zhang, Jinghui, Rowe, William L., Clark, Andrew G., Buetow, Kenneth H.

Knowledge of human haplotype structure has important implications for strategies of disease-gene mapping and for understanding human evolutionary history. Many attributes of SNPs and haplotypes...

ATG deserts define a novel core promoter subclass

Lee, Maxwell P., Howcroft, Kevin, Kotekar, Aparna, Yang, Howard H., Buetow, Kenneth H., Singer, Dinah S.

The MHC class I gene, PD1, has neither functional TATAA nor Initiator (Inr) elements in its core promoter and initiates transcription at multiple, dispersed sites over an extended region in vitro....

SNPdetector: A Software Tool for Sensitive and Accurate SNP Detection

Zhang, Jinghui, Wheeler, David A, Yakub, Imtiaz, Wei, Sharon, Sood, Raman, Rowe, William, ...

Identification of single nucleotide polymorphisms (SNPs) and mutations is important for the discovery of genetic predisposition to complex diseases. PCR resequencing is the method of choice for de...

A detailed multipoint map of human chromosome 4 provides evidence for linkage heterogeneity and position-specific recombination rates

Buetow, Kenneth H., Shiang, Rita, Yang, Ping, Nakamura, Yusuke, Lathrop, G. Mark, White, Raymond, ...

Utilizing the CEPH reference panel and genotypic data for 53 markers, we have constructed a 20-locus multipoint genetic map of human chromosome 4. New RFLPs are reported for four loci. The map...

Linkage disequilibrium of plasminogen polymorphisms and assignment of the gene to human chromosome 6q26-6q27

Murray, Jeffrey C., Buetow, Kenneth H., Donovan, Mark, Hornung, Sigrid, Motulsky, Arno G., Disteche, Christine, ...

Linkage disequilibrium was observed between newly identified DNA polymorphisms and a previously described protein polymorphism for plasminogen. This finding implies that the two types of...

Identification of Key Processes Underlying Cancer Phenotypes Using Biologic Pathway Analysis

Efroni, Sol, Schaefer, Carl F., Buetow, Kenneth H.

Cancer is recognized to be a family of gene-based diseases whose causes are to be found in disruptions of basic biologic processes. An increasingly deep catalogue of canonical networks details the...

Allele-Specific Chromatin Immunoprecipitation Studies Show Genetic Influence on Chromatin State in Human Genome

Kadota, Mitsutaka, Yang, Howard H, Hu, Nan, Wang, Chaoyu, Hu, Ying, Taylor, Philip R, ...

Several recent studies have shown a genetic influence on gene expression variation, including variation between the two chromosomes within an individual and variation between individuals at the...

A Common Region of Deletion on Chromosome 17q in Both Sporadic and Familial Epithelial Ovarian Tumors Distal to BRCA1

Godwin, Andrew K., Vanderveer, Lisa, Schultz, David C., Lynch, Henry T., Altomare, Deborah A., Buetow, Kenneth H., ...

Linkage analysis in familial breast and ovarian cancer and studies of allelic deletion in sporadic ovarian tumors have identified a region on chromosome 17q containing a candidate tumor-suppressor...

Systematic analysis of genetic alterations in tumors using Cancer Genome WorkBench (CGWB)

Zhang, Jinghui, Finney, Richard P., Rowe, William, Edmonson, Michael, Yang, Sei Hoon, Dracheva, Tatiana, ...

Systematic investigations of genetic changes in tumors are expected to lead to greatly improved understanding of cancer etiology. To meet the analytical challenges presented by such studies, we...

Superposition of Transcriptional Behaviors Determines Gene State

Efroni, Sol, Carmel, Liran, Schaefer, Carl G., Buetow, Kenneth H.

We introduce a novel technique to determine the expression state of a gene from quantitative information measuring its expression. Adopting a productive abstraction from current thinking in molecular...

PID: the Pathway Interaction Database

Schaefer, Carl F., Anthony, Kira, Krupa, Shiva, Buchoff, Jeffrey, Day, Matthew, Hannay, Timo, ...

The Pathway Interaction Database (PID, http://pid.nci.nih.gov) is a freely available collection of curated and peer-reviewed pathways composed of human molecular signaling and regulatory events and...