A5012463534- Genomics and Rare Diseases
- BRCA gene mutations in cancer
- Ethics in Clinical Research
- Cancer Genomics and Diagnostics
- Genomic variations and chromosomal abnormalities
- Metabolism and Genetic Disorders
- Nutrition, Genetics, and Disease
- Genetic factors in colorectal cancer
- Neurogenetic and Muscular Disorders Research
- Cardiomyopathy and Myosin Studies
- Health Systems, Economic Evaluations, Quality of Life
- RNA modifications and cancer
- Chromosomal and Genetic Variations
- Biomedical Ethics and Regulation
- Genetic diversity and population structure
- CRISPR and Genetic Engineering
- Prenatal Screening and Diagnostics
- Health, Environment, Cognitive Aging
- Congenital heart defects research
- Genetics, Bioinformatics, and Biomedical Research
- Biomedical and Engineering Education
- Plant tissue culture and regeneration
- Species Distribution and Climate Change
- Williams Syndrome Research
- PI3K/AKT/mTOR signaling in cancer
University of North Carolina at Chapel Hill
2015-2024
University of North Carolina Health Care
2019-2024
University of Calgary
2023
Pediatrics and Genetics
2016-2023
Institute of Genetics and Cytology of the National Academy of Sciences of Belarus
2022
RELX Group (United States)
2019
Duke University
2018
The Ohio State University Wexner Medical Center
2018
Renaissance Computing Institute
2018
Oregon Health & Science University
2018
Genetic testing for families with hypertrophic cardiomyopathy (HCM) provides a significant opportunity to improve care. Recent trends increase gene panel sizes often mean variants in genes questionable association are reported patients. Classification of HCM and is critical, as misclassification can lead genetic misdiagnosis. We show the validity previously using an established method evaluating gene-disease associations.A systematic approach was used assess associations, including...
The rapid development of genomic sequencing technologies has decreased the cost genetic analysis to extent that it seems plausible genome-scale could have widespread availability in pediatric care. Genomic provides a powerful diagnostic modality for patients who manifest symptoms monogenic disease and an opportunity detect health conditions before their development. However, many technical, clinical, ethical, societal challenges should be addressed such technology is widely deployed...
Genome-scale sequencing creates vast amounts of genomic data, increasing the challenge clinical sequence variant interpretation. The demand for high-quality interpretation requires multiple specialties to join forces accelerate pathogenicity. With over 600 international members including clinicians, researchers, and laboratory diagnosticians, Clinical Genome Resource (ClinGen), funded by National Institutes Health, is forming expert groups systematically evaluate variants in clinically...
The ClinGen PTEN Expert Panel was organized by the Hereditary Cancer Clinical Domain Working Group to assemble clinicians, researchers, and molecular diagnosticians with expertise develop specifications 2015 ACMG/AMP Sequence Variant Interpretation Guidelines for variant interpretation. We describe finalized PTEN-specific classification criteria outcomes from pilot testing of 42 variants benign/likely benign (BEN/LBEN), pathogenic/likely pathogenic (PATH/LPATH), uncertain significance (VUS),...
Genome and exome sequencing can identify variants unrelated to the primary goal of sequencing. Detecting pathogenic associated with an increased risk a medical disorder enables clinical interventions improve future health outcomes in patients their at-risk relatives. The Clinical Resource, or ClinGen, aims assess actionability genes disorders as part larger effort build central resource information regarding relevance genomic variation for use precision medicine research.
As whole exome sequencing (WES) becomes more widely used in the clinical realm, a wealth of unanalyzed information will be routinely generated. Using WES read depth data to predict copy number variation (CNV) could extend diagnostic utility this previously underutilized by providing clinically important such as unsuspected deletions or duplications. We evaluated ExomeDepth, free R package, addition an aneuploidy prediction method, detect CNVs data. First, blinded pilot study, five out...
Purpose: Advances in clinical genomic sequencing capabilities, including reduced costs and knowledge gains, have bolstered the consideration of screening healthy adult populations. Yet, little is known about existing landscape programs United States. It can be difficult to find information on current implementation efforts best practices, particularly light critical questions equity, cost, benefit. Methods: In 2020, we searched publicly available Internet scientific literature identify...
To evaluate the diagnostic yield and workflow of genome-scale sequencing in patients with neuromuscular disorders (NMDs).We performed exome 93 undiagnosed various NMDs for whom a molecular diagnosis was not yet established. Variants on both targeted broad gene lists were identified. Prior tests extracted from patient's medical record to use context their prior workup.The overall our cohort 12.9%, one or more pathogenic likely variants identified causative associated disorder. Targeted had...
Abstract Background Newborn screening aims to identify individual patients who could benefit from early management, treatment, and/or surveillance practices. As sequencing technologies have progressed and we move into the era of precision medicine, genomic has been introduced this area with hopes detecting variants related a vastly expanded number conditions. Though implementation for newborn in public health clinical settings is limited, commercial laboratories begun offer panels neonates....
Using next-generation sequencing (NGS) in newborn screening (NBS) could expand the number of genetic conditions detected pre-symptomatically, simultaneously challenging current precedents, raising ethical concerns, and extending role parental decision-making NBS. The NC NEXUS (Newborn Exome Sequencing for Universal Screening) study seeks to assess technical possibilities limitations NGS-NBS, devise evaluate a framework convey various types information, develop best practices incorporating...
Precision public health holds promise to improve disease prevention and promotion strategies, allowing the right intervention be delivered population at time. Growing concerns underscore potential for precision-based approaches exacerbate disparities by relying on biased data inputs recapitulating existing access inequities. To achieve its full potential, precision must focus addressing social structural drivers of prominently incorporate equity-related concerns, particularly with respect...
Genomic sequencing offers an unprecedented opportunity to detect inherited variants that are implicated in rare Mendelian disorders, yet there many challenges overcome before this technology can routinely be applied the healthy population. The age-based genomic screening (ABGS) approach is a novel alternative genome-scale at birth aims provide highly actionable genetic information parents over course of their child’s routine health care. ABGS utilizes established metric identify conditions...
Aim: Maximizing the utility and equity of genomic sequencing integration in clinical care requires engaging patients, their families, communities. The NCGENES 2 study explores impact engagement between clinicians caregivers children with undiagnosed conditions context a diagnostic study. Methods: A Community Consult Team (CCT) diverse parents advocates for genetic and/or neurodevelopmental was formed. Results: Early consistent CCT resulted adaptations to protocol materials relevant this...
An emerging role for DNA sequencing is to identify people at risk an inherited cancer syndrome in order prevent or ameliorate the manifestation of symptoms. Two syndromes, Hereditary Breast and Ovarian Cancer Lynch Syndrome meet "Tier 1" evidence threshold established by Centers Disease Control Prevention (CDC) routine testing patients with a personal family history cancer. Advancements genomic medicine have accelerated public health pilot programs these highly medically actionable...