A5039492014- Genetic Neurodegenerative Diseases
- RNA and protein synthesis mechanisms
- Genomics and Phylogenetic Studies
- Genetics and Neurodevelopmental Disorders
- Genetic Mapping and Diversity in Plants and Animals
- Genomic variations and chromosomal abnormalities
- Molecular Biology Techniques and Applications
- Genomics and Rare Diseases
- Chemotherapy-related skin toxicity
- Genetic diversity and population structure
- Fungal and yeast genetics research
- Drug-Induced Adverse Reactions
- Autism Spectrum Disorder Research
- RNA Research and Splicing
- Colorectal Cancer Treatments and Studies
University of California, San Diego
2020-2023
Texas A&M University – Kingsville
2011
Texas A&M Health Science Center
2011
Abstract Tandem repeats (TRs) represent one of the largest sources genetic variation in humans and are implicated a range phenotypes. Here we present deep characterization TR based on high coverage whole genome sequencing from 3550 diverse individuals 1000 Genomes Project H3Africa cohorts. We develop method, EnsembleTR, to integrate genotypes four separate methods resulting high-quality at more than 1.7 million loci. Our catalog reveals novel sequence features influencing heterozygosity,...
Abstract The BXD recombinant inbred (RI) mouse strains are the largest and most deeply phenotyped panel of vertebrate organisms. RIs allow phenotyping isogenic individuals across virtually any environment or treatment. We performed whole genome sequencing generated a compendium SNPs, indels, short tandem repeats, structural variants in these used them to analyze phenomic data accumulated over past 50 years. show that BXDs segregate >6 million with high minor allele which dervied from...
Abstract Tandem repeats (TRs) represent one of the largest sources genetic variation in humans and are implicated a range phenotypes. Here we present deep characterization TR based on high coverage whole genome sequencing from 3,550 diverse individuals 1000 Genomes Project H3Africa cohorts. We develop method, EnsembleTR, to integrate genotypes four separate methods resulting high-quality at more than 1.7 million loci. Our catalog reveals novel sequence features influencing heterozygosity,...
Short tandem repeats (STRs) are a class of rapidly mutating genetic elements typically characterized by repeated units 1–6 bp. We leveraged whole-genome sequencing data for 152 recombinant inbred (RI) strains from the BXD family mice to map loci that modulate genome-wide patterns new mutations arising during parent-to-offspring transmission at STRs. defined quantitative phenotypes describing numbers and types germline STR in each strain performed trait locus (QTL) analyses these phenotypes....
Leucovorin is a reduced form of folic acid, which has multiple uses. 1 In this case report, it used in combination with fluorouracil the treatment colon cancer. We describe 53-year-old male, who was started on FOLFOX 6 + bevacizumab experienced hypersensitivity reaction to leucovorin. There have been very few cases leucovorin reactions reported literature. case, symptoms include flushing, hives, body pain, headaches, elevated blood pressures, and general discomfort. Although are considered...
Autism Spectrum Disorder (ASD) is an early onset developmental disorder characterized by deficits in communication and social interaction restrictive or repetitive behaviors 1,2 . Family studies demonstrate that ASD has a significant genetic basis 3 with contributions both from inherited de novo variants. While the majority of variance liability to estimated arise common variation 4 , it been mutations may contribute 30% all simplex cases, which only single child affected per family 5 Tandem...
Abstract Short tandem repeats (STRs) are a class of rapidly mutating genetic elements characterized by repeated units 1 or more nucleotides. We leveraged whole genome sequencing data for 152 recombinant inbred (RI) strains from the BXD family derived C57BL/6J and DBA/2J mice to study effects background on genome-wide patterns new mutations at STRs. defined quantitative phenotypes describing numbers types germline STR in each strain identified locus chromosome 13 associated with propensity...