Cathy C. Laurie
- Genetic Associations and Epidemiology
- Genetic Mapping and Diversity in Plants and Animals
- Epigenetics and DNA Methylation
- Genetic and phenotypic traits in livestock
- RNA modifications and cancer
- Nutrition, Genetics, and Disease
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Genetic diversity and population structure
- Birth, Development, and Health
- Cancer-related molecular mechanisms research
- Folate and B Vitamins Research
- Genomic variations and chromosomal abnormalities
- Asthma and respiratory diseases
- Hemoglobinopathies and Related Disorders
- BRCA gene mutations in cancer
- Cardiac electrophysiology and arrhythmias
- Diet, Metabolism, and Disease
- Cleft Lip and Palate Research
- Lipid metabolism and biosynthesis
- Blood groups and transfusion
- Gene expression and cancer classification
- Craniofacial Disorders and Treatments
- Genetic factors in colorectal cancer
- Chronic Obstructive Pulmonary Disease (COPD) Research
University of Washington
2015-2025
VA Office of Research and Development
2022
VA Boston Healthcare System
2022
Universitätsmedizin Greifswald
2022
Beth Israel Deaconess Medical Center
2021
Seattle University
2011-2018
Cancer Research And Biostatistics
2016-2018
The University of Texas Health Science Center at Houston
2013-2017
Wayne State University
2017
University of Maryland, Baltimore
2013-2016
Abstract Summary: Genome-wide association studies are widely used to investigate the genetic basis of diseases and traits, but they pose many computational challenges. We developed gdsfmt SNPRelate (R packages for multi-core symmetric multiprocessing computer architectures) accelerate two key computations on SNP data: principal component analysis (PCA) relatedness using identity-by-descent measures. The kernels our algorithms written in C/C++ highly optimized. Benchmarks show uniprocessor...
Abstract Genome‐wide scans of nucleotide variation in human subjects are providing an increasing number replicated associations with complex disease traits. Most the variants detected have small effects and, collectively, they account for a fraction total genetic variance. Very large sample sizes required to identify and validate findings. In this situation, even sources systematic or random error can cause spurious results obscure real effects. The need careful attention data quality has...
Excessive alcohol consumption is one of the leading causes preventable death in United States. Approximately 14% those who use meet criteria during their lifetime for dependence, which characterized by tolerance, withdrawal, inability to stop drinking, and continued drinking despite serious psychological or physiological problems. We explored genetic influences on dependence among 1,897 European-American African-American subjects with compared 1,932 unrelated, alcohol-exposed, nondependent...
Orofacial clefts (OFCs), which include non-syndromic cleft lip with or without palate (CL/P), are among the most common birth defects in humans, affecting approximately 1 700 newborns. CL/P is phenotypically heterogeneous and has a complex etiology caused by genetic environmental factors. Previous genome-wide association studies (GWASs) have identified at least 15 risk loci for CL/P. As these do not account all of variance CL/P, we hypothesized existence additional loci. We conducted...
Abstract Heritability, the proportion of phenotypic variance explained by genetic factors, can be estimated from pedigree data 1 , but such estimates are uninformative with respect to underlying architecture. Analyses genome-wide association studies (GWAS) on unrelated individuals have shown that for human traits and disease, approximately one-third two-thirds heritability is captured common SNPs 2–5 . It not known whether remaining due imperfect tagging causal variants SNPs, in particular...
Abstract In one of the longest-running experiments in biology, researchers at University Illinois have selected for altered composition maize kernel since 1896. Here we use an association study to infer genetic basis dramatic changes that occurred response selection oil concentration. The population was produced by a cross between high- and low-selection lines generation 70, followed 10 generations random mating derivation 500 selfing. These were genotyped 488 markers concentration evaluated...
Abstract In hybrids between Drosophila simulans and D. mauritiana, males are sterile females fertile, in compliance with Haldane's rule. The genetic basis of this phenomenon was investigated by introgression segments the mauritiana genome into a background. A total 87 positions throughout were marked P-element insertions replicate introgressions made repeated backcrossing to for 15 generations. fraction hemizgyous X chromosomal that male is ~50% greater than homozygous autosomal segments....
Abstract Comparisons of the genetic and cytogenetic maps three sibling species Drosophila reveal marked differences in frequency cumulative distribution crossovers during meiosis. The for two these species, melanogaster D. simulans, have previously been described, while this report presents new map data mauritiana, obtained using a set P element markers. A covering nearly entire genome was constructed by estimating recombination fraction each pair adjacent inserts. P-based mauritiana is ~1.8...
Abstract Two closely related species of Drosophila, D. simulans and mauritiana, differ markedly in morphology the posterior lobe male genital arch. Both size shape aspects variation can be quantified by a morphometric descriptor based on elliptical Fourier principal components analyses. The genetic architecture this quantitative trait (PC1) was investigated hybridizing inbred lines to produce two backcross populations ~200 individuals each, which were analyzed jointly composite interval...
Abstract Summary: GWASTools is an R/Bioconductor package for quality control and analysis of genome-wide association studies (GWAS). brings the interactive capability extensive statistical libraries R to GWAS. Data are stored in NetCDF format accommodate extremely large datasets that cannot fit within R’s memory limits. The documentation includes instructions converting data from multiple formats, including variants called sequencing. provides a convenient interface linking genotypes...
Abstract The size and shape of the posterior lobe male genital arch differs dramatically between Drosophila simulans D. mauritiana. This difference can be quantified with a morphometric descriptor (PC1) based on elliptical Fourier principal components analyses. genetic basis interspecific in PC1 was investigated by application quantitative trait locus (QTL) mapping procedures to segregating backcross populations. parental (35 environmental standard deviations) heritability populations...
To identify type 2 diabetes (T2D) susceptibility loci, we conducted genome-wide association (GWA) scans in nested case–control samples from two prospective cohort studies, including 2591 patients and 3052 controls of European ancestry. Validation was performed 11 independent GWA studies 10 870 cases 73 735 controls. We identified significantly associated variants near RBMS1 ITGB6 genes at 2q24, best-represented by SNP rs7593730 (combined OR = 0.90, 95% CI 0.86–0.93; P 3.7 × 10−8). The...
We performed a multistage genome-wide association study of melanoma. In discovery cohort 1804 melanoma cases and 1026 controls, we identified loci at chromosomes 15q13.1 (HERC2/OCA2 region) 16q24.3 (MC1R) regions that reached significance within this also found strong evidence for genetic effects on susceptibility to from markers chromosome 9p21.3 in the p16/ARF region 1q21.3 (ARNT/LASS2/ANXA9 region). The most significant single-nucleotide polymorphisms (SNPs) locus (rs1129038 rs12913832)...