Stanley Letovsky
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View article: Optimising carrier frequency estimation using population sequencing data and variant effect predictions
Optimising carrier frequency estimation using population sequencing data and variant effect predictions Open
Background A new approach to estimating gene carrier rates was introduced in 2019, relying on the frequency of pathogenic/likely pathogenic (P/LP) variants from ClinVar in a large, population sequencing database (Genome Aggregation Databas…
View article: Determination of high-confidence germline genetic variants in next- generation sequencing through machine learning models: an approach to reduce the burden of orthogonal confirmation
Determination of high-confidence germline genetic variants in next- generation sequencing through machine learning models: an approach to reduce the burden of orthogonal confirmation Open
Background: Orthogonal confirmation of variants identified by next-generation sequencing (NGS) is routinely performed in many clinical laboratories to improve assay specificity. However, confirmatory testing of all clinically significant v…
View article: Calculated Globulin: Early Detection of Immunodeficiency
Calculated Globulin: Early Detection of Immunodeficiency Open
Serum calculated globulin (cGlob) (total protein – albumin) reflects immunoglobulins. We sought to validate cGlob as an aid to diagnosis of CVID using a large sample of patients with connected diagnostic testing from a national reference l…
View article: A program for real-time surveillance of SARS-CoV-2 genetics
A program for real-time surveillance of SARS-CoV-2 genetics Open
The COVID-19 pandemic brought forth an urgent need for widespread genomic surveillance for rapid detection and monitoring of emerging SARS-CoV-2 variants. It necessitated design, development, and deployment of a nationwide infrastructure d…
View article: Assessing the contributions of phylogenetic and environmental determinants of allergic cosensitization to fungi in humans
Assessing the contributions of phylogenetic and environmental determinants of allergic cosensitization to fungi in humans Open
Combined evidence from clinical IgE testing data on fungi, along with phylogenetic and environmental exposure data, supports the hypothesis that cosensitization is caused primarily by monosensitization plus cross-reactivity, rather than mu…
View article: Fungal allergen sensitization: Prevalence, risk factors, and geographic variation in the United States
Fungal allergen sensitization: Prevalence, risk factors, and geographic variation in the United States Open
Independent risk factors for fungal sensitization include male sex, teen ages, atopic dermatitis, asthma, and ecoregion.
View article: Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies
Clinical characterization of the mutational landscape of 24,639 real-world samples from patients with myeloid malignancies Open
Myeloid neoplasms represent a broad spectrum of hematological disorders for which somatic mutation status in key driver genes is important for diagnosis, prognosis and treatment. Here we summarize the findings of a targeted, next generatio…
View article: SARS-CoV-2 spike-protein targeted serology test results and their association with subsequent COVID-19-related outcomes
SARS-CoV-2 spike-protein targeted serology test results and their association with subsequent COVID-19-related outcomes Open
Importance In the absence of evidence of clinical utility, the United States' Centers for Disease Control and Prevention does not currently recommend the assessment of severe acute respiratory syndrome coronavirus-2 (SARS-CoV-2) spike-prot…
View article: SARS-CoV-2 Convalescent Sera Binding and Neutralizing Antibody Concentrations Compared with COVID-19 Vaccine Efficacy Estimates against Symptomatic Infection
SARS-CoV-2 Convalescent Sera Binding and Neutralizing Antibody Concentrations Compared with COVID-19 Vaccine Efficacy Estimates against Symptomatic Infection Open
Although COVID-19 vaccine efficacy (VE) studies have estimated antibody concentrations that correlate with protection from COVID-19, how these estimates compare to those generated in response to SARS-CoV-2 infection is unclear. We assessed…
View article: Modeling COVID-19 disease biology to identify drug treatment candidates
Modeling COVID-19 disease biology to identify drug treatment candidates Open
Coronavirus disease 2019 (COVID-19) is an infectious disease caused by severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2). Currently, there are a limited number of effective treatments. A variety of drugs that have been approved …
View article: SARS-CoV-2 Convalescent Sera Binding and Neutralizing Antibody Concentrations Compared with COVID-19 Vaccine Efficacy Estimates Against Symptomatic Infection
SARS-CoV-2 Convalescent Sera Binding and Neutralizing Antibody Concentrations Compared with COVID-19 Vaccine Efficacy Estimates Against Symptomatic Infection Open
Previous vaccine efficacy (VE) studies have estimated neutralizing and binding antibody concentrations that correlate with protection from symptomatic infection; how these estimates compare to those generated in response to SARS-CoV-2 infe…
View article: Chronic Kidney Disease Testing Among At-Risk Adults in the U.S. Remains Low: Real-World Evidence From a National Laboratory Database
Chronic Kidney Disease Testing Among At-Risk Adults in the U.S. Remains Low: Real-World Evidence From a National Laboratory Database Open
OBJECTIVE An estimated 37 million Americans have chronic kidney disease (CKD). Nearly 90% do not know about their condition because of low awareness about the importance of CKD testing and diagnosis among practitioners and people at risk f…
View article: Chronic Kidney Disease Testing Among At-Risk Adults in the U.S. Remains Low: Real-World Evidence From a National Laboratory Database
Chronic Kidney Disease Testing Among At-Risk Adults in the U.S. Remains Low: Real-World Evidence From a National Laboratory Database Open
Objective: An estimated 37 million Americans have chronic kidney disease (CKD). Nearly 90% do not know about their condition because of low awareness about the importance of CKD testing and diagnosis among practitioners and people at-risk …
View article: Chronic Kidney Disease Testing Among At-Risk Adults in the U.S. Remains Low: Real-World Evidence From a National Laboratory Database
Chronic Kidney Disease Testing Among At-Risk Adults in the U.S. Remains Low: Real-World Evidence From a National Laboratory Database Open
Objective: An estimated 37 million Americans have chronic kidney disease (CKD). Nearly 90% do not know about their condition because of low awareness about the importance of CKD testing and diagnosis among practitioners and people at-risk …
View article: A population-based analysis of the longevity of SARS-CoV-2 antibody seropositivity in the United States
A population-based analysis of the longevity of SARS-CoV-2 antibody seropositivity in the United States Open
Observational data from a national clinical laboratory, though limited by an epidemiological view of the U.S. population, offer an encouraging timeline for the development and sustainability of antibodies up to ten months from natural infe…
View article: A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing
A customized scaffolds approach for the detection and phasing of complex variants by next-generation sequencing Open
Next-generation sequencing (NGS) is widely used in genetic testing for the highly sensitive detection of single nucleotide changes and small insertions or deletions. However, detection and phasing of structural variants, especially in repe…
View article: BRCA Share: A Collection of Clinical BRCA Gene Variants
BRCA Share: A Collection of Clinical BRCA Gene Variants Open
As next-generation sequencing increases access to human genetic variation, the challenge of determining clinical significance of variants becomes ever more acute. Germline variants in the BRCA1 and BRCA2 genes can confer substantial lifeti…