Carney, Amanda E., Sanders, Rebecca D., Garza, Kerry R., McGaha, Lee Anne, Bean, Lora J. H., Coffee, Bradford W., ...
Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with Duarte galactosemia demonstrate reduced...
Lin, Shin, Carvalho, Benilton, Cutler, David J, Arking, Dan E, Chakravarti, Aravinda, Irizarry, Rafael A
Abstract Multiple algorithms have been developed for the purpose of calling single nucleotide polymorphisms (SNPs) from Affymetrix microarrays. We extend and validate the algorithm CRLMM, which...
Bremer, Lindsay A., Blackman, Scott M., Vanscoy, Lori L., McDougal, Kathryn E., Bowers, Amanda, Naughton, Kathleen M., ...
Cystic fibrosis (CF), the most common lethal single gene disorder in Caucasians, is due to mutations in the CFTR gene. Twin and sibling analysis indicates that modifier genes, rather than allelic...
A second generation human haplotype map of over 3.1 million SNPs (2007)
Frazer, Kelly A., Ballinger, Dennis G., Cox, David R., Hinds, David A., Stuve, Laura L., Gibbs, Richard A., ...
We describe the Phase II HapMap, which characterizes over 3.1 million human single nucleotide polymorphisms (SNPs) genotyped in 270 individuals from four geographically diverse populations and...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)
Adrian Gherman, Peter E. Chen, Tanya M. Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S. Kashuk, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture (2007)
Adrian Gherman, Peter E. Chen, Tanya Teslovich, Pawel Stankiewicz, Marjorie Withers, Carl S Kashuk, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance between selective advantage, selective disadvantage and genetic drift. When...
On the probability that a novel variant is a disease-causing mutation (2005)
Mitchell, Adele A., Chakravarti, Aravinda, Cutler, David J.
When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing...
On the probability that a novel variant is a disease-causing mutation (2005)
Mitchell, Adele A., Chakravarti, Aravinda, Cutler, David J.
When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing...
Microarray-based resequencing of multiple Bacillus anthracisisolates (2004)
Zwick, Michael E, Mcafee, Farrell, Cutler, David J, Read, Timothy D, Ravel, Jacques, Bowman, Gregory R, ...
Abstract We used custom-designed resequencing arrays to generate 3.1 Mb of genomic sequence from a panel of 56 Bacillus anthracis strains. Sequence quality was shown to be very high by replication...
Wong, Christopher W., Albert, Thomas J., Vega, Vinsensius B., Norton, Jason E., Cutler, David J., Richmond, Todd A., ...
Mutations in the SARS-Coronavirus (SARS-CoV) can alter its clinical presentation, and the study of its mutation patterns in human populations can facilitate contact tracing. Here, we describe the...
Haplotype and Missing Data Inference in Nuclear Families (2004)
Lin, Shin, Chakravarti, Aravinda, Cutler, David J.
Determining linkage phase from population samples with statistical methods is accurate only within regions of high linkage disequilibrium (LD). Yet, affected individuals in a genetic mapping study,...
Mitchell, Adele A., Zwick, Michael E., Chakravarti, Aravinda, Cutler, David J.
Three recent publications have examined the quality and completeness of dbSNP and have come to dramatically different conclusions regarding dbSNP's false positive rate and the proportion of dbSNPs...
Haplotype and Missing Data Inference in Nuclear Families (2004)
Lin, Shin, Chakravarti, Aravinda, Cutler, David J.
Determining linkage phase from population samples with statistical methods is accurate only within regions of high linkage disequilibrium (LD). Yet, affected individuals in a genetic mapping study,...
Mitchell, Adele A., Zwick, Michael E., Chakravarti, Aravinda, Cutler, David J.
Three recent publications have examined the quality and completeness of dbSNP and have come to dramatically different conclusions regarding dbSNP's false positive rate and the proportion of dbSNPs...
Badano, Jose L., Kim, Jun Chul, Hoskins, Bethan E., Lewis, Richard Alan, Ansley, Stephen J., Cutler, David J., ...
Bardet–Biedl syndrome (BBS) is a pleiotropic genetic disorder with substantial inter- and intrafamilial variability, that also exhibits remarkable genetic heterogeneity, with seven mapped BBS loci...
High-throughput variation detection and genotyping using microarrays. (2001)
Cutler, David J., Zwick, Michael E., Carrasquillo, Minerva M., Yohn, Christopher T., Tobin, Katherine P., Kashuk, Carl, ...
The genetic dissection of complex traits may ultimately require a large number of SNPs to be genotyped in multiple individuals who exhibit phenotypic variation in a trait of interest. Microarray...
High-Throughput Variation Detection and Genotyping Using Microarrays (2001)
Cutler, David J., Zwick, Michael E., Carrasquillo, Minerva M., Yohn, Christopher T., Tobin, Katherine P., Kashuk, Carl, ...
High-Throughput Variation Detection and Genotyping Using Microarrays (2001)
Cutler, David J., Zwick, Michael E., Carrasquillo, Minerva M., Yohn, Christopher T., Tobin, Katherine P., Kashuk, Carl, ...
High-Throughput Variation Detection and Genotyping Using Microarrays (2001)
Cutler, David J., Zwick, Michael E., Carrasquillo, Minerva M., Yohn, Christopher T., Tobin, Katherine P., Kashuk, Carl, ...
Estimating Divergence Times in the Presence of an Overdispersed Molecular Clock (2000)
Molecular loci that fail relative-rate tests are said to be “overdispersed.” Traditional molecular-clock approaches to estimating divergence times do not take this into account. In this study, a...
Thesis (Ph. D.)--University of Nottingham, 1998.
High-Throughput Variation Detection and Genotyping Using Microarrays
Cutler, David J., Zwick, Michael E., Carrasquillo, Minerva M., Yohn, Christopher T., Tobin, Katherine P., Kashuk, Carl, ...
The genetic dissection of complex traits may ultimately require a large number of SNPs to be genotyped in multiple individuals who exhibit phenotypic variation in a trait of interest. Microarray...
Wong, Christopher W., Albert, Thomas J., Vega, Vinsensius B., Norton, Jason E., Cutler, David J., Richmond, Todd A., ...
Mutations in the SARS-Coronavirus (SARS-CoV) can alter its clinical presentation, and the study of its mutation patterns in human populations can facilitate contact tracing. Here, we describe the...
Haplotype and Missing Data Inference in Nuclear Families
Lin, Shin, Chakravarti, Aravinda, Cutler, David J.
Determining linkage phase from population samples with statistical methods is accurate only within regions of high linkage disequilibrium (LD). Yet, affected individuals in a genetic mapping study,...
Microarray-based resequencing of multiple Bacillus anthracis isolates
Zwick, Michael E, Mcafee, Farrell, Cutler, David J, Read, Timothy D, Ravel, Jacques, Bowman, Gregory R, ...
Custom-designed resequencing arrays were used to generate 3.1 Mb of genomic sequence from a panel of 56 Bacillus anthracis strains. Sequence quality was shown to be very high by replication and by...
On the probability that a novel variant is a disease-causing mutation
Mitchell, Adele A., Chakravarti, Aravinda, Cutler, David J.
When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing...
High-Throughput Variation Detection and Genotyping Using Microarrays
Cutler, David J., Zwick, Michael E., Carrasquillo, Minerva M., Yohn, Christopher T., Tobin, Katherine P., Kashuk, Carl, ...
The genetic dissection of complex traits may ultimately require a large number of SNPs to be genotyped in multiple individuals who exhibit phenotypic variation in a trait of interest. Microarray...
Wong, Christopher W., Albert, Thomas J., Vega, Vinsensius B., Norton, Jason E., Cutler, David J., Richmond, Todd A., ...
Mutations in the SARS-Coronavirus (SARS-CoV) can alter its clinical presentation, and the study of its mutation patterns in human populations can facilitate contact tracing. Here, we describe the...
Haplotype Inference in Random Population Samples
Lin, Shin, Cutler, David J., Zwick, Michael E., Chakravarti, Aravinda
Contemporary genotyping and sequencing methods do not provide information on linkage phase in diploid organisms. The application of statistical methods to infer and reconstruct linkage phase in...
Haplotype and Missing Data Inference in Nuclear Families
Lin, Shin, Chakravarti, Aravinda, Cutler, David J.
Determining linkage phase from population samples with statistical methods is accurate only within regions of high linkage disequilibrium (LD). Yet, affected individuals in a genetic mapping study,...
Microarray-based resequencing of multiple Bacillus anthracis isolates
Zwick, Michael E, Mcafee, Farrell, Cutler, David J, Read, Timothy D, Ravel, Jacques, Bowman, Gregory R, ...
Custom-designed resequencing arrays were used to generate 3.1 Mb of genomic sequence from a panel of 56 Bacillus anthracis strains. Sequence quality was shown to be very high by replication and by...
On the probability that a novel variant is a disease-causing mutation
Mitchell, Adele A., Chakravarti, Aravinda, Cutler, David J.
When a novel variant is found in a patient and not in a group of controls, it becomes a candidate for the disease-causing mutation in that patient. At present, no sampling theory exists for assessing...
Mitchell, Adele A., Cutler, David J., Chakravarti, Aravinda
The transmission/disequilibrium test (TDT), a family-based test of linkage and association, is a popular and intuitive statistical test for studies of complex inheritance, as it is nonparametric and...
A Note on Exact Tests of Hardy-Weinberg Equilibrium
Wigginton, Janis E., Cutler, David J., Abecasis, Gonçalo R.
Deviations from Hardy-Weinberg equilibrium (HWE) can indicate inbreeding, population stratification, and even problems in genotyping. In samples of affected individuals, these deviations can also...
Population Bottlenecks as a Potential Major Shaping Force of Human Genome Architecture
Gherman, Adrian, Chen, Peter E, Teslovich, Tanya M, Stankiewicz, Pawel, Withers, Marjorie, Kashuk, Carl S, ...
The modern synthetic view of human evolution proposes that the fixation of novel mutations is driven by the balance among selective advantage, selective disadvantage, and genetic drift. When...
An Oligonucleotide Microarray for High-Throughput Sequencing of the Mitochondrial Genome
Zhou, Shaoyu, Kassauei, Keyaunoosh, Cutler, David J., Kennedy, Giulia C., Sidransky, David, Maitra, Anirban, ...
Previously we developed an oligonucleotide sequencing microarray (MitoChip) as an array-based sequencing platform for rapid and high-throughput analysis of mitochondrial DNA. The first generation...
Arking, Dan E., Cutler, David J., Brune, Camille W., Teslovich, Tanya M., West, Kristen, Ikeda, Morna, ...
Autism is a childhood neuropsychiatric disorder that, despite exhibiting high heritability, has largely eluded efforts to identify specific genetic variants underlying its etiology. We performed a...
Validation and extension of an empirical Bayes method for SNP calling on Affymetrix microarrays
Lin, Shin, Carvalho, Benilton, Cutler, David J, Arking, Dan E, Chakravarti, Aravinda, Irizarry, Rafael A
Extended and validated CRLMM is shown to be more accurate than the Affymetrix default programs, and datasets and methods for validation are presented that can serve as standard benchmarks by which...
The use of oxyallyl cations in the synthesis of biologically interesting molecules.
Thesis (Ph. D.)--University of Reading, (nd).
Carney, Amanda E., Sanders, Rebecca D., Garza, Kerry R., McGaha, Lee Anne, Bean, Lora J. H., Coffee, Bradford W., ...
Duarte galactosemia is a mild to asymptomatic condition that results from partial impairment of galactose-1-phosphate uridylyltransferase (GALT). Patients with Duarte galactosemia demonstrate reduced...