Austin Antoniou
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View article: The Clinical Genomic Variation Landscape
The Clinical Genomic Variation Landscape Open
Interpreting genomic variation requires analysts to collate and process information from disparate genomic evidence resources to discern the contributions to diseases and drug responses. Differences in variant representation across these e…
View article: Where We Overlap: Examining the Collaborative Practice of Neonatology and Palliative Care
Where We Overlap: Examining the Collaborative Practice of Neonatology and Palliative Care Open
BACKGROUND AND OBJECTIVES In neonates for whom prognostication is complex or uncertain, it is critical to carefully consider how best to apply principles of palliative care. As subspecialty pediatric palliative care has become more readily…
View article: Prematurity and Delayed Diagnosis of Down Syndrome
Prematurity and Delayed Diagnosis of Down Syndrome Open
OBJECTIVE The aim of this study was to compare age at diagnosis of common aneuploidies with gestational age (GA) at birth to determine whether prematurity is associated with delayed diagnosis. METHODS We conducted a retrospective cohort st…
View article: P545: Examining sociodemographic factors associated with genomic research participation: Evidence from a pediatric rapid sequencing study
P545: Examining sociodemographic factors associated with genomic research participation: Evidence from a pediatric rapid sequencing study Open
View article: CNVoyant a machine learning framework for accurate and explainable copy number variant classification
CNVoyant a machine learning framework for accurate and explainable copy number variant classification Open
View article: NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates
NeoGx: Machine-Recommended Rapid Genome Sequencing for Neonates Open
Background Genetic disease is common in the Level IV Neonatal Intensive Care Unit (NICU), but neonatology providers are not always able to identify the need for genetic evaluation. We trained a machine learning (ML) algorithm to predict th…
View article: CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants
CNVoyant: A Highly Performant and Explainable Multi-Classifier Machine Learning Approach for Determining the Clinical Significance of Copy Number Variants Open
View article: CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation
CAVaLRi: An Algorithm for Rapid Identification of Diagnostic Germline Variation Open
Clinical exome and genome sequencing (ES/GS) have become indispensable diagnostic tools for rare genetic diseases (RGD). However, the interpretation of ES/GS presents a substantial operational challenge in clinical settings. Test interpret…
View article: Provision and availability of genomic medicine services in Level IV neonatal intensive care units
Provision and availability of genomic medicine services in Level IV neonatal intensive care units Open
View article: P563: Anonymous is synonymous: Utilizing de-identified genetic and clinical information to evaluate diagnostic prioritization algorithms
P563: Anonymous is synonymous: Utilizing de-identified genetic and clinical information to evaluate diagnostic prioritization algorithms Open
View article: On atomic density of numerical semigroup algebras
On atomic density of numerical semigroup algebras Open
A numerical semigroup S is a cofinite, additively closed subset of the nonnegative integers that contains 0. We initiate the study of atomic density, an asymptotic measure of the proportion of irreducible elements in a given ring or semigr…
View article: On the arithmetic of power monoids and sumsets in cyclic groups
On the arithmetic of power monoids and sumsets in cyclic groups Open
Let $H$ be a multiplicatively written monoid with identity $1_H$ (in particular, a group). We denote by $\mathcal P_{\rm fin,\times}(H)$ the monoid obtained by endowing the collection of all finite subsets of $H$ containing a unit with the…
View article: On Atomic Density of Numerical Semigroup Algebras
On Atomic Density of Numerical Semigroup Algebras Open
A numerical semigroup $S$ is a cofinite, additively-closed subset of the nonnegative integers that contains $0$. In this paper, we initiate the study of atomic density, an asymptotic measure of the proportion of irreducible elements in a g…
View article: Irreducible polynomials in Int(ℤ)
Irreducible polynomials in Int(ℤ) Open
In order to fully understand the factorization behavior of the ring Int(ℤ) = { f ∈ ℚ[x] | f (ℤ) ⊆ ℤ} of integer-valued polynomials on ℤ, it is crucial to identify the irreducible elements. Peruginelli [8] gives an algorithmic criterion to …