Lori H. Handley
A5037997661- Genomics and Rare Diseases
- Genomics and Phylogenetic Studies
- Genomic variations and chromosomal abnormalities
- Genetics and Neurodevelopmental Disorders
- RNA regulation and disease
- Microbial Community Ecology and Physiology
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Protist diversity and phylogeny
- Algal biology and biofuel production
- Mitochondrial Function and Pathology
- Cancer Genomics and Diagnostics
- RNA and protein synthesis mechanisms
- Plant biochemistry and biosynthesis
- Chromatin Remodeling and Cancer
- Microbial Natural Products and Biosynthesis
- Lung Cancer Treatments and Mutations
- Wheat and Barley Genetics and Pathology
- Bioenergy crop production and management
- Congenital heart defects research
- Ecology and Vegetation Dynamics Studies
- Genetic Mapping and Diversity in Plants and Animals
- Metabolism and Genetic Disorders
- CRISPR and Genetic Engineering
- Plant Water Relations and Carbon Dynamics
HudsonAlpha Institute for Biotechnology
2020-2024
Variant detection from long-read genome sequencing (lrGS) has proven to be more accurate and comprehensive than variant short-read (srGS). However, the rate at which lrGS can increase molecular diagnostic yield for rare disease is not yet precisely characterized. We performed using Pacific Biosciences HiFi technology on 96 short-read-negative probands with diseases that were suspected genetic. generated hg38-aligned variants de novo phased assemblies, subsequently annotated, filtered,...
Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions NDDs cannot attributed currently detectable genetic variation. This is likely, at least in part, a result fact that many variants are difficult or impossible detect through typical short-read approaches. Here, we describe genomic analysis using Pacific Biosciences circular consensus (CCS) reads, which both long (>10 kb) accurate (>99% bp accuracy). We...
Microbial communities in the world ocean are affected strongly by oceanic circulation, creating characteristic marine biomes. The high connectivity of most makes it difficult to disentangle selective retention colonizing genotypes (with traits suited biome specific conditions) from evolutionary selection, which would act on founder over time. Arctic Ocean is exceptional with limited exchange other oceans and ice covered since last age. To test whether microalgal lineages evolved apart algae...
Polyploidy results from whole-genome duplication and is a unique form of heritable variation with pronounced evolutionary implications. Different ploidy levels, or cytotypes, can exist within single species, such systems provide an opportunity to assess how alters phenotypic novelty, adaptability, fitness, which can, in turn, drive the development ecological niches that promote coexistence multiple cytotypes. Switchgrass, Panicum virgatum, widespread, perennial C4 grass North America...
Variant detection from long-read genome sequencing (lrGS) has proven to be considerably more accurate and comprehensive than variant short-read (srGS). However, the rate at which lrGS can increase molecular diagnostic yield for rare disease is not yet precisely characterized. We performed using Pacific Biosciences "HiFi" technology on 96 short-read-negative probands with that were suspected genetic. generated hg38-aligned variants de novo phased assemblies, subsequently annotated, filtered,...
Red algae or seaweeds produce highly distinctive halogenated terpenoid compounds, including the pentabromochlorinated monoterpene halomon that was once heralded as a promising anticancer agent. The first dedicated step in biosynthesis of these natural product molecules is expected to be catalyzed by terpene synthase (TS) enzymes. Recent work has demonstrated an emerging class type I TSs red algal biosynthesis. However, only one such enzyme from notoriously haloterpenoid-producing alga...
Climate change presents distinct ecological and physiological challenges to plants as extreme climate events become more common. Understanding how species have adapted drought, especially ecologically important nonmodel organisms, will be crucial elucidate potential biological pathways for drought adaptation inform conservation strategies. To aid in genome-to-phenome research, a draft genome was assembled diploid individual of Artemisia tridentata subsp. tridentata, threatened keystone shrub...
Abstract Purpose Exome and genome sequencing have proven to be effective tools for the diagnosis of neurodevelopmental disorders (NDDs), but large fractions NDDs cannot attributed currently detectable genetic variation. This is likely, at least in part, a result fact that many variants are difficult or impossible detect through typical short-read approaches. Methods Here, we describe genomic analysis using Pacific Biosciences circular consensus (CCS) reads, which both long (>10 kb)...
Alexander disease (AD) is an autosomal dominant progressive astrogliopathy caused by pathogenic variants in glial fibrillary acidic protein (GFAP).1 Clinical presentation of AD includes infantile AD, characterized psychomotor retardation, seizures, pyramidal signs, and megalencephaly; juvenile bulbar/pseudobulbar hyperreflexia, lower limb spasticity, ataxia, loss intellectual function, macrocephaly; adult-onset bulbar symptoms, palatal myoclonus, bladder dysfunction, spastic paraparesis.1...
Abstract The Arctic Ocean is being impacted by warming temperatures, increasing freshwater and highly variable ice conditions. microalgal communities underpinning marine food webs, once thought to be dominated diatoms, include a phylogenetically diverse range of small algal species, whose biology remains poorly understood. Here, we present genome sequences cryptomonad, haptophyte, chrysophyte, pelagophyte, isolated from the water column ice. Comparing protein family distributions sequence...