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Whole genome resequencing data provide high-resolution conservation insights into population structure and life historyNARA Subscribed
Whole genome resequencing can be a powerful tool for uncovering biological insights and quantifying population genomic metrics relevant to conservation. These insights have the potential to be most profound in secretive or elusive species that are understudied but whose populations may be waning. The western chicken turtle ( Deirochelys reticularia miaria ) is one such example where conservationists are concerned about reporte...
Image-based machine learning methods are becoming among the most widely-used forms of data analysis across science, technology, engineering, and industry. These methods are powerful because they can rapidly and automatically extract rich contextual and spatial information from images, a process that has historically required a large amount of human labor. A wide range of recent scientific applications have demonstrated the pot...
Multiple system atrophy (MSA) is a fatal neurodegenerative disease of unknown etiology characterized by widespread aggregation of the protein alpha-synuclein in neurons and glia. Its orphan status, biological relationship to Parkinson’s disease (PD), and rapid progression have sparked interest in drug development. One significant obstacle to therapeutics is disease heterogeneity. Here, we share our process of developing a clin...
Extended gene panel testing in lobular breast cancerNARA Subscribed
Purpose : Lobular breast cancer (LBC) accounts for ~ 15% of breast cancer. Here, we studied the frequency of pathogenic germline variants (PGVs) in an extended panel of genes in women affected with LBC. Methods : 302 women with LBC and 1567 without breast cancer were tested for BRCA1/2 PGVs. A subset of 134 LBC affected women who tested negative for BRCA1/2 PGVs underwent extended screening, including: ATM, CDH1, CHEK2, NBN, P...
Cystic fibrosis improves COVID-19 survival and provides clues for treatment of SARS-CoV-2NARA Subscribed
Systemic pools of ATP are elevated in individuals homozygous for cystic fibrosis (CF) as evidenced by elevated blood and plasma ATP levels. This elevated ATP level seems to provide benefit in the presence of advanced solid tumors (Abraham et al., Nature Medicine 2(5):593–596, 1996). We published in this journal a paper showing that IV ATP can elevate the depleted ATP pools of advanced cancer patients up to levels found in CF p...
The temporal behavior of seabed light in a shallow, tidal sea is set largely by the interaction of the solar elevation cycle with tidal cycles in water depth and temporal variability in water clarity. The effect of tidal modulation on seabed light often does not simply average out, producing instead a net effect (either an amplification or a reduction of seabed light, integrated over time) compared to a tideless, but otherwise...
Estimates from molecular data for the fraction of new nonsynonymous mutations that are adaptive vary strongly across plant species. Much of this variation is due to differences in life history strategies as they influence the effective population size ( N e ). Ample variation for these estimates, however, remains even when comparisons are made across species with similar values of N e . An open question thus remains as to why...
Genetic variation is often arrayed in latitudinal or altitudinal clines, reflecting either adaptation along environmental gradients, migratory routes, or both. For forest trees, climate is one of the most important drivers of adaptive phenotypic traits. Correlations of single and multilocus genotypes with environmental gradients have been identified for a variety of forest trees. These correlations are interpreted normally as...
Parasite establishment in host communitiesNARA Subscribed
Many pathogens and parasites attack multiple host species, so their ability to invade a host community can depend on host community composition. We present a graphical isocline framework for studying disease establishment in systems with two host species, based on treating host species as resources. The isocline approach provides a natural generalization to multi‐host systems of two related concepts in disease ecology – the ba...
Genetic polymorphism in Gymnodinium galatheanum chloroplast DNA sequences and development of a molecular detection assayNARA Subscribed
Nuclear and chloroplast‐encoded small subunit ribosomal DNA sequences were obtained from several strains of the toxic dinoflagellate Gymnodinium galatheanum. Phylogenetic analyses and comparison of sequences indicate that the chloroplast sequences show a higher degree of sequence divergence than the nuclear homologue. The chloroplast sequences were chosen as targets for the development of a 5′–3′ exonuclease assay for detectio...
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