Amy L. Williams
A5066162736- Genetic Associations and Epidemiology
- Genetic and phenotypic traits in livestock
- Genetic Mapping and Diversity in Plants and Animals
- Gene expression and cancer classification
- Epigenetics and DNA Methylation
- Genomics and Rare Diseases
- Bioinformatics and Genomic Networks
- Forensic and Genetic Research
- Pancreatic function and diabetes
- Metabolism, Diabetes, and Cancer
- Cassava research and cyanide
- RNA and protein synthesis mechanisms
- Alzheimer's disease research and treatments
- Genetic and Environmental Crop Studies
- Genomics and Phylogenetic Studies
- Molecular Biology Techniques and Applications
- Cancer-related gene regulation
- Mitochondrial Function and Pathology
- Genetic diversity and population structure
- Software System Performance and Reliability
- Computer Graphics and Visualization Techniques
- Archaeology and ancient environmental studies
- Advanced biosensing and bioanalysis techniques
- Biological Research and Disease Studies
- Pleistocene-Era Hominins and Archaeology
23andMe (United States)
2023-2024
Cornell University
1989-2023
Molecular Biology Consortium
2023
Roper St. Francis Healthcare
2022
Cardiff University
2008-2022
Henry Ford Hospital
2021
Nottingham Trent University
2020
Royal Children's Hospital
1953-2019
Broad Institute
2012-2017
Case Western Reserve University
2017
<h3>Importance</h3> Latino populations have one of the highest prevalences type 2 diabetes worldwide. <h3>Objectives</h3> To investigate association between rare protein-coding genetic variants and prevalence in a large population to explore potential molecular physiological mechanisms for observed relationships. <h3>Design, Setting, Participants</h3> Whole-exome sequencing was performed on DNA samples from 3756 Mexican US individuals (1794 with 1962 without diabetes) recruited 1993 2013....
Although the past decade has seen tremendous progress in our understanding of fine-scale recombination, little is known about non-crossover (NCO) gene conversion. We report first genome-wide study NCO events humans. Using SNP array data from 98 meioses, we identified 103 sites affected by NCO, which 50/52 were confirmed sequence data. Overlap with double strand break (DSB) hotspots indicates that most are likely meiotic origin. estimate a site involved at rate 5.9 × 10−6/bp/generation,...
The sequencing of Neanderthal and Denisovan genomes has yielded many new insights about interbreeding events between extinct hominins the ancestors modern humans. While much attention been paid to relatively recent gene flow from Neanderthals Denisovans into humans, other instances introgression leave more subtle genomic evidence have received less attention. Here, we present a major extension ARGweaver algorithm, called ARGweaver-D, which can infer local genetic relationships under...
Inferring relatedness from genomic data is an essential component of genetic association studies, population genetics, forensics, and genealogy. While numerous methods exist for inferring relatedness, thorough evaluation these approaches in real has been lacking. Here, we report assessment 12 state-of-the-art pairwise inference using a set with 2485 individuals contained several large pedigrees that span up to six generations. We find all have high accuracy (92-99%) when detecting first-...
Insulin sensitivity, insulin secretion, clearance, and glucose effectiveness exhibit strong genetic components, although few studies have examined their architecture or influence on type 2 diabetes (T2D) risk. We hypothesized that loci affecting variation in these quantitative traits T2D. completed a multicohort genome-wide association study to search for influencing T2D-related 4,176 Mexican Americans. Quantitative were measured by the frequently sampled intravenous tolerance test (four...
Simulations of close relatives and identical by descent (IBD) segments are common in genetic studies, yet most past efforts have utilized sex averaged maps ignored crossover interference, thus omitting features known to affect the breakpoints IBD segments. We developed Ped-sim, a method for simulating that can utilize either sex-specific or also model interference traditional Poisson inter-crossover distances. To characterize impact previously mechanisms, we simulated data all four...
Among US Latinas and Mexican women, those with higher European ancestry have increased risk of breast cancer. We combined an admixture mapping genome-wide association approach to search for genomic regions that may explain this observation. Latina women cancer (n= 1497) controls 1272) were genotyped using Affymetrix Illumina arrays. inferred locus-specific genetic compared the between cases controls. also performed single nucleotide polymorphism (SNP) analyses in interest. Correction...
Rare mutations in AβPP, PSEN1, and PSEN2 cause uncommon early onset forms of Alzheimer's disease (AD), common variants MAPT are associated with risk other neurodegenerative disorders. We sought to establish whether genetic variation these genes confer the form AD which occurs later life (>65 years). therefore tested single-nucleotide polymorphisms at loci for association late-onset (LOAD) a large case-control sample consisting 3,940 cases 13,373 controls. Single-marker analysis did not...
Type 2 diabetes (T2D) affects more than 415 million people worldwide, and its costs to the health care system continue rise. To identify common or rare genetic variation with potential therapeutic implications for T2D, we analyzed replicated genome-wide protein coding in a total of 8,227 individuals T2D 12,966 without Latino descent. We identified novel variant IGF2 gene associated ∼20% reduced risk T2D. This variant, which has an allele frequency 17% Mexican population but is Europe,...
Abstract The computational bottleneck in a ray tracer using bounding volume hierarchies is often the intersection routine with axis-aligned boxes. We describe version of this that uses IEEE numerical properties to ensure those tests are both robust and efficient. Sample source code available online.
RECIEvED FOR PUBLICATiON 1ANuARY 6
14 patients with idiopathic myo- carditis have been studied, 12 of them at the Children's Hospital, Melbourne, and two in Hamilton Base Victoria.All were carefully observed clinically electrocardiographic radiological studies heart made most.In those who died routine macroscopic microscopic examination was all organs, histological study included sections from both ventricles, auricles, interventricular septum valves. ClassificationClassification serves as a basis for presentation rather than...
Haplotype phasing, the process of determining which genetic variants are physically located on same chromosome, is crucial for various analyses. In this study, we first benchmark SHAPEIT and Beagle, two state-of-the-art phasing methods, large datasets: > 8 million diverse, research-consented 23andMe, Inc. customers UK Biobank (UKB). We find that both perform exceptionally well. Beagle's median switch error rate (SER) (after excluding single SNP switches) in white British trios from UKB...
Our group has developed a “Creative Health” project as participatory education after Japan’s 2011 earthquake, tsunami, and nuclear disaster in Fukushima. The engages elementary school children three workshops: “ACT” was first, by sociologist specializing theater, to empower express what they think about their community. “BODY” “FOOD” came next, developed, respectively, an academic pathologist blood transfusion university-based nurse-dietitian. Each workshop provides creative activities...
The computational bottleneck in a ray tracer using bounding volume hierarchies is often the intersection routine with axis-aligned boxes. We describe version of this that uses IEEE numerical properties to ensure those tests are both robust and efficient. Sample source code available online.
Significance Contributions of rare variants to common and complex traits such as type 2 diabetes (T2D) are difficult measure. This paper describes our results from deep whole-genome analysis large Mexican-American pedigrees understand the role rare-sequence variations in T2D related through enriched allele counts pedigrees. Our study design was well-powered detect association if with effects collectively accounted for portions risk variability, but did not identify this sample. We further...
Objective Vein of Galenaneurysmal malformation (VGAM) is a rare but important congenital presenting to neonatal intensive care units (NICUs), and with change from surgical endovascular management, survival for this condition has improved. However, there little reported about the medical management decisions infants associated long-term neurodevelopmental outcomes. We aim report single centre experience both acute treatment outcomes VGAM those admitted our NICU soon after birth. Design...