A5070528547- Animal Behavior and Reproduction
- Genomics and Rare Diseases
- Animal Vocal Communication and Behavior
- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Chromosomal and Genetic Variations
- Biochemical Analysis and Sensing Techniques
- Genetic diversity and population structure
- Olfactory and Sensory Function Studies
- Primate Behavior and Ecology
- Cancer-related gene regulation
- Avian ecology and behavior
- RNA and protein synthesis mechanisms
- Amphibian and Reptile Biology
- Viral Infectious Diseases and Gene Expression in Insects
- Wildlife Ecology and Conservation
- Bat Biology and Ecology Studies
- CRISPR and Genetic Engineering
- Evolution and Genetic Dynamics
- Genetic Mapping and Diversity in Plants and Animals
- Effects of Environmental Stressors on Livestock
- Hemophilia Treatment and Research
- Transgenic Plants and Applications
- Corneal surgery and disorders
- Genetic factors in colorectal cancer
Duke University
2012-2024
National Institute of Environmental Health Sciences
2024
Manchester University NHS Foundation Trust
2021-2022
St Mary's Hospital
2021-2022
St. Mary's Hospital
2021-2022
Ohio University
2020
Takeda (United States)
2019
Children's Hospital of Western Ontario
2018
Wake Forest University
2008-2014
Center for Human Genetics
2012
We present the analysis of twenty human genomes to evaluate prospects for identifying rare functional variants that contribute a phenotype interest. sequenced at high coverage ten "case" from individuals with severe hemophilia A and "control" genomes. summarize number genetic emerging study this magnitude, provide proof concept identification highly-penetrant by confirming cause is easily recognizable in data set. also show novel single nucleotide (SNVs) discovered per genome seems stabilize...
As is true of virtually every realm the biological sciences, our understanding speciation increasingly informed by genomic revolution past decade. Investigators can ask detailed questions relating to both extrinsic (e.g. inter- and intra-population ecological interactions) intrinsic genome content architecture) forces that drive speciation. Technologies ranging from restriction-site associated DNA sequencing (RADseq), whole assembly, transcriptomics, CRISPR are revolutionizing means which...
Phylogeographic analysis can be described as the study of geological and climatological processes that have produced contemporary geographic distributions populations species. Here, we attempt to understand how dynamic process landscape change on Madagascar has shaped distribution a targeted clade mouse lemurs (genus Microcebus ) and, conversely, phylogenetic population genetic patterns in these small primates reciprocally advance our understanding Madagascar's prehuman environment. The...
Idiopathic generalized epilepsy (IGE) is a complex disease with high heritability, but little known about its genetic architecture. Rare copy-number variants have been found to explain nearly 3% of individuals IGE; however, it remains unclear whether moderate effect size and frequencies below what are reliably detected genome-wide association studies contribute significantly risk. In this study, we compare the exome sequences 118 IGE 242 controls European ancestry by using next-generation...
Vomeronasal receptor genes have frequently been invoked as integral to the establishment and maintenance of species boundaries among mammals due elaborate one-to-one correspondence between semiochemical signals neuronal sensory inputs.Here, we report most extensive sample vomeronasal class 1 (V1R) sequences ever generated for a diverse yet phylogenetically coherent group mammals, tooth-combed primates (suborder Strepsirrhini).Phylogenetic analysis confirms our intensive sampling from single...
The de novo assembly of repeat-rich mammalian genomes using only high-throughput short read sequencing data typically results in highly fragmented genome assemblies that limit downstream applications. Here, we present an iterative approach to hybrid incorporates datasets stemming from multiple genomic technologies and methods. We used this improve the gray mouse lemur (Microcebus murinus) early draft status a near chromosome-scale assembly.We combination advanced iteratively resolve...
A bstract Mouse lemurs ( Microcebus ) are a radiation of morphologically cryptic primates distributed throughout Madagascar for which the number recognized species has exploded in past two decades. This taxonomic explosion prompted understandable concern that there been substantial oversplitting mouse lemur clade. Here, we take an integrative approach to investigate diversity pairs sister lineages occur region northeastern with high levels microendemism and predicted habitat loss. We...
DNA quantity can be a hindrance in ecological and evolutionary research programmes due to range of factors including endangered status target organisms, available tissue type, the impact field conditions on preservation methods. A potential solution low-quantity lies whole genome amplification (WGA) techniques that substantially increase yield. To date, few studies have rigorously examined sequence bias might result from WGA next-generation sequencing nonmodel taxa. address this knowledge...
Objective The Genetic Absence Epilepsy Rats from Strasbourg (GAERS) are an inbreed Wistar rat strain widely used as a model of genetic generalised epilepsy with absence seizures. As in humans, the architecture that results generalized GAERS is poorly understood. Here we present strain-specific variants found among epileptic and their related Non-Epileptic Control (NEC) strain. NEC represent powerful opportunity to identify neurobiological factors associated phenotype. Methods We performed...
RNA-Seq has enabled high-throughput gene expression profiling to provide insight into the functional link between genotype and phenotype. Low quantities of starting RNA can be a severe hindrance for studies that aim utilize RNA-Seq. To mitigate this bottleneck, whole transcriptome amplification (WTA) technologies have been developed generate sufficient sequencing targets from minute amounts RNA. Successful WTA requires accurate replication transcript abundance without loss or distortion...
Abstract High‐throughput sequencing platforms are generating massive amounts of genomic data from nonmodel species, and these sets valuable resources that can be mined to advance a number research areas. An example is the growing amount transcriptome allow for examination gene expression in species. Here, we show how publicly available primates used design novel focused on immunogenomics. We world's most endangered group primates, lemurs Madagascar, sequences corresponding immunoglobulins....
Abstract Sensory gene families are of special interest for both what they can tell us about molecular evolution and imply as mediators social communication. The vomeronasal type-1 receptors (V1Rs) have often been hypothesized playing a fundamental role in driving or maintaining species boundaries given their likely function intraspecific mate choice, particularly nocturnal mammals. Here, we employ comparative genomic approach revealing patterns V1R within primates, with focus on the...
Abstract Spontaneous germline mutations are the raw material on which evolution acts, and knowledge of their frequency genomic distribution is crucial for understanding how operates at both long short timescales. At present, rate spectrum de novo have been directly characterized in only a few lineages. It therefore critical to expand phylogenetic scope these studies gain more general observed mutation patterns. Our study provides first direct estimate strepsirrhine (i.e., lemurs lorises),...
Abstract Dominance is a primary determinant of social dynamics and resource access in animals. Recent studies show that dominance also reflected the gene regulatory profiles peripheral immune cells. However, strength direction this relationship differs across species sex combinations investigated, potentially due to variation predictors energetic consequences status. Here, we investigated association between status expression blood wild meerkats ( Suricata suricatta ; n = 113 individuals),...
Abstract Factors intrinsic or extrinsic to individuals, such as their quality the of competition in social environment, can influence communication signaling effort. We hypothesized that telencephalic monoamine secretion mediates effects a male's own and his environment on sexual The duration male European starling's ( Sturnus vulgaris ) principal signal, song, positively correlates with several aspects quality, including reproductive success, immunocompetence, ability attract mates....
SUMMARY Males should adjust their behavior and its neural substrates according to the quality of competition that they assess by eavesdropping on other males'courtship signals. In European starlings (Sturnus vulgaris), females base mate choice, in part, aspects male song associated with length,which positively correlates males' reproductive success,immunocompetence, age ability repel competing males. To determine how variation courtship affects brain incidental receivers, we exposed adult...
ABSTRACT Purpose The majority of clinical genetic testing focuses almost exclusively on regions the genome that directly encode proteins. important role variants in non-coding penetrant disease is, however, increasingly being demonstrated, and use whole sequencing diagnostic settings is rising across a large range disorders. Despite this, there no existing guidance how current guidelines designed primarily for protein-coding should be adapted identified other genomic contexts. Methods We...