Honey V. Reddi
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View article: Pharmacogenomic Testing
Pharmacogenomic Testing Open
Context.— Clinical laboratories are increasingly implementing pharmacogenomic (PGx) testing. Although PGx is similar to genetic testing for other indications, there are unique aspects that laboratories should consider. Objective.— To aid c…
View article: INNV-56. The use of liquid biopsy in cerebrospinal fluid for early diagnosis of leptomeningeal disease and primary central nervous system malignancy: a single academic institution experience
INNV-56. The use of liquid biopsy in cerebrospinal fluid for early diagnosis of leptomeningeal disease and primary central nervous system malignancy: a single academic institution experience Open
The recent development of a cerebrospinal fluid (CSF) based assay for use in clinical practice has led to improvements in diagnosis of central nervous system (CNS) malignancy, both primary and secondary. This assay has emerged as a new and…
View article: BIOM-34. GENOMIC ANALYSIS OF CSF CTDNA IN LUNG CANCER-RELATED LEPTOMENINGEAL METASTASES
BIOM-34. GENOMIC ANALYSIS OF CSF CTDNA IN LUNG CANCER-RELATED LEPTOMENINGEAL METASTASES Open
INTRODUCTION CSF-based ctDNA analysis holds potential in refining molecular diagnoses and staging in LMD, providing prognostic information, and optimizing CSF-directed therapy. Herein we retrospectively evaluate the potential clinical util…
View article: Molecular Analysis of Cerebrospinal Fluid Tumor-Derived DNA to Aid in the Diagnosis and Targeted Treatment of Breast Cancer Brain Metastasis
Molecular Analysis of Cerebrospinal Fluid Tumor-Derived DNA to Aid in the Diagnosis and Targeted Treatment of Breast Cancer Brain Metastasis Open
A woman in her 40s with a history of ER/PR+, HER2-negative breast cancer presented with a seizure three years after mastectomy. Magnetic resonance imaging (MRI) revealed a right caudate head mass, which was concerning for either high-grade…
View article: Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors – a meta analysis of the literature
Demonstrating the clinical utility of genomic profiling using cerebrospinal fluid to inform management of central nervous system tumors – a meta analysis of the literature Open
View article: Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult
Analysis of cerebrospinal fluid tumor-derived DNA to obviate biopsy of IDH-mutant brainstem glioma in an adult Open
View article: Analytical Validation and Clinical Sensitivity of the Belay Summit Assay for the Detection of DNA Variants in Cerebrospinal Fluid of Primary and Metastatic Central Nervous System Cancer
Analytical Validation and Clinical Sensitivity of the Belay Summit Assay for the Detection of DNA Variants in Cerebrospinal Fluid of Primary and Metastatic Central Nervous System Cancer Open
View article: Analytical validation of the Belay Vantage™ assay for evaluation of MGMT promoter methylation using enzymatically converted tumorDNA from cerebrospinal fluid
Analytical validation of the Belay Vantage™ assay for evaluation of MGMT promoter methylation using enzymatically converted tumorDNA from cerebrospinal fluid Open
MGMT promoter methylation status (hypermethylation) is one of the strongest prognostic and predictive biomarkers in glioblastoma (GBM) and is associated with a more favorable response to alkylating chemotherapies such as Temozolomide (TMZ)…
View article: Evaluating the clinical utility of genomic profiling using cerebrospinal fluid to inform treatment and management of central nervous system tumors – a Meta Analysis of the literature
Evaluating the clinical utility of genomic profiling using cerebrospinal fluid to inform treatment and management of central nervous system tumors – a Meta Analysis of the literature Open
Purpose: Meta-analysis of literature was performed to gain an understanding of the performance of genomic profiling assays in cerebrospinal fluid (CSF) for the diagnosis and management of CNS cancers. Methods: Using PRISMA methodology, Pub…
View article: Editorial: Genetics and epigenetics in ovarian aging
Editorial: Genetics and epigenetics in ovarian aging Open
View article: Choroid plexus metastasis of a renal cell carcinoma—A case report and review of the literature
Choroid plexus metastasis of a renal cell carcinoma—A case report and review of the literature Open
View article: Cerebrospinal Fluid based liquid biopsy to inform diagnosis and management of Leptomeningeal Metastases in EGFR-Mutant Lung Cancer – A Case Report
Cerebrospinal Fluid based liquid biopsy to inform diagnosis and management of Leptomeningeal Metastases in EGFR-Mutant Lung Cancer – A Case Report Open
Leptomeningeal disease (LMD) in advanced non-small cell lung cancer (NSCLC) carries a poor prognosis and is challenging to diagnose without invasive biopsy. Traditional cerebrospinal fluid (CSF) cytology considered the gold standard in dia…
View article: Genetics and Genomics of Gastroschisis, Elucidating a Potential Genetic Etiology for the Most Common Abdominal Defect: A Systematic Review
Genetics and Genomics of Gastroschisis, Elucidating a Potential Genetic Etiology for the Most Common Abdominal Defect: A Systematic Review Open
(1) Background: The exact etiology for gastroschisis, the most common abdominal defect, is yet to be known, despite the rising prevalence of this condition. The leading theory suggests an increased familial risk, indicating a possible gene…
View article: Evaluation of the ASPYRE-Lung targeted variant panel: a rapid, low-input solution for non-small cell lung cancer biomarker testing and experience from three independent sites
Evaluation of the ASPYRE-Lung targeted variant panel: a rapid, low-input solution for non-small cell lung cancer biomarker testing and experience from three independent sites Open
ASPYRE-Lung assay is a cost-effective, easy to adopt testing method requiring no specialized expertise or complicated bioinformatics, with the potential to inform genomic data on small tissue samples, thus enabling all patients with NSCLC …
View article: ASPYRE-Lung: validation of a simple, fast, robust and novel method for multi-variant genomic analysis of actionable NSCLC variants in FFPE tissue
ASPYRE-Lung: validation of a simple, fast, robust and novel method for multi-variant genomic analysis of actionable NSCLC variants in FFPE tissue Open
Introduction Genomic variant testing of tumors is a critical gateway for patients to access the full potential of personalized oncology therapeutics. Current methods such as next-generation sequencing are costly and challenging to interpre…
View article: OCTS-05 BRAIN BIOMARKER ANALYSIS OF LIKELY TUMOR ORIGIN (BALTO)- A PROSPECTIVE STUDY FOR THE DETECTION/DIAGNOSIS OF CNS TUMORS FROM CSF USING THE BELAY SUMMIT™ ASSAY
OCTS-05 BRAIN BIOMARKER ANALYSIS OF LIKELY TUMOR ORIGIN (BALTO)- A PROSPECTIVE STUDY FOR THE DETECTION/DIAGNOSIS OF CNS TUMORS FROM CSF USING THE BELAY SUMMIT™ ASSAY Open
Currently, there is a lack of adequate sensitive and specific non- or minimally invasive molecular biomarker technologies to aid in the diagnosis of Central Nervous System (CNS) cancers in patients suspected of having disease based on clin…
View article: Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy: Insight from Trio Whole Genome Analysis and Isodisomy Mapping Open
Purpose: An investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM#176270) using joint whole genome sequencing (WGS). Methods: Trio WGS joint analysis was performe…
View article: Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions
Reduction in ACE2 expression in peripheral blood mononuclear cells during COVID-19 – implications for post COVID-19 conditions Open
Background Severe COVID-19 is uncommon, restricted to 19% of the total population. In response to the first virus wave (alpha variant of SARS-CoV-2), we investigated whether a biomarker indicated severity of disease and, in particular, if …
View article: Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy Using Uniparental Disomy and Joint Whole Genome Analysis
Diagnosis of Two Unrelated Syndromes of Prader-Willi and Calpainopathy Using Uniparental Disomy and Joint Whole Genome Analysis Open
Purpose: Investigation for the co-occurrence of two unrelated genetic disorders of muscular dystrophy and Prader-Willi syndrome (PWS) (OMIM # 176270) using joint whole genome sequencing (WGS). Methods: Trio WGS joint analysis was performed…
View article: Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Myotonic dystrophy type 1 testing, 2024 revision: A technical standard of the American College of Medical Genetics and Genomics (ACMG) Open
View article: Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG)
Laboratory testing for preconception/prenatal carrier screening: A technical standard of the American College of Medical Genetics and Genomics (ACMG) Open
View article: ASPYRE-Lung: Validation of a simple, fast, robust and novel method for multi-variant genomic analysis of actionable NSCLC variants in tissue
ASPYRE-Lung: Validation of a simple, fast, robust and novel method for multi-variant genomic analysis of actionable NSCLC variants in tissue Open
Genomic variant testing of tumors is a critical gateway for patients to access the full potential of personalized oncology therapeutics. Current methods such as next-generation sequencing are costly and challenging to interpret, while PCR …
View article: ACE2 expression in PBMC and plasma markers of vasculopathy and fibrosis during early COVID – implications for post-COVID conditions
ACE2 expression in PBMC and plasma markers of vasculopathy and fibrosis during early COVID – implications for post-COVID conditions Open
Background : Severe COVID is uncommon, restricted to 19% of the population. In response to the first virus wave (alpha variant of SARS-CoV-2), we investigated whether variable expression of angiotensin converting enzyme 2 (ACE2) in blood m…
View article: Editorial: Emerging talents in genomic assay technology
Editorial: Emerging talents in genomic assay technology Open
EDITORIAL article Front. Genet., 11 September 2023Sec. Genomic Assay Technology Volume 14 - 2023 | https://doi.org/10.3389/fgene.2023.1259011
View article: Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study
Feasibility and value of genomic profiling in cancer of unknown primary: real-world evidence from prospective profiling study Open
Real-world evidence regarding the value of integrating genomic profiling (GP) in managing cancer of unknown primary (CUP) is limited. We assessed this clinical utility using a prospective trial of 158 patients with CUP (October 2016-Septem…
View article: The Maine Cancer Genomics Initiative: Implementing a Community Cancer Genomics Program Across an Entire Rural State
The Maine Cancer Genomics Initiative: Implementing a Community Cancer Genomics Program Across an Entire Rural State Open
PURPOSE The Maine Cancer Genomics Initiative (MCGI) aimed to overcome patient- and provider-level barriers to using genomic tumor testing (GTT) in rural practices by providing genomic tumor boards (GTBs), clinician education, and access to…
View article: Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
Laboratory perspectives in the development of polygenic risk scores for disease: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Open
View article: The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG)
The clinical application of polygenic risk scores: A points to consider statement of the American College of Medical Genetics and Genomics (ACMG) Open
View article: Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG)
Points to consider in the practice of postmortem genetic testing: A statement of the American College of Medical Genetics and Genomics (ACMG) Open
View article: Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies
Analytical validation and implementation of a pan cancer next-generation sequencing panel, CANSeqTMKids for molecular profiling of childhood malignancies Open
Next-Generation Sequencing (NGS) allows rapid analysis of multiple genes for the detection of clinically actionable variants. This study reports the analytical validation of a targeted pan cancer NGS panel CANSeq TM Kids for molecular prof…