A5070461219- BRCA gene mutations in cancer
- Genomics and Rare Diseases
- Ethics in Clinical Research
- Genetic factors in colorectal cancer
- Nutrition, Genetics, and Disease
- Cancer Genomics and Diagnostics
- Biomedical Ethics and Regulation
- Genomic variations and chromosomal abnormalities
- Pharmacogenetics and Drug Metabolism
- Health Systems, Economic Evaluations, Quality of Life
- Prenatal Screening and Diagnostics
- Genetic Associations and Epidemiology
- Advanced Optimization Algorithms Research
- Intellectual Property and Patents
- Estrogen and related hormone effects
- Genetics, Bioinformatics, and Biomedical Research
- Congenital heart defects research
- Health and Medical Research Impacts
- Optimization and Variational Analysis
- Biotechnology and Related Fields
- Neurogenetic and Muscular Disorders Research
- Pharmaceutical industry and healthcare
- Inflammatory mediators and NSAID effects
- Science, Research, and Medicine
- Congenital limb and hand anomalies
University of North Carolina at Chapel Hill
2012-2021
National Society of Genetic Counselors
2020
Renaissance Computing Institute
2017-2018
Duke University
2017-2018
The Ohio State University Wexner Medical Center
2018
University of Colorado Denver
2018
University of North Carolina Health Care
2012-2018
Geisinger Health System
2018
Oregon Health & Science University
2018
East Carolina University
2017
On autopsy, a patient is found to have hypertrophic cardiomyopathy. The patient’s family pursues genetic testing that shows “likely pathogenic” variant for the condition on basis of study in an original research publication. Given dominant inheritance and risk sudden cardiac death, other members are tested determine their risk. Several test negative told they not at cardiomyopathy those who positive need be regularly monitored echocardiography. Five years later, during routine clinic visit...
Recommendations for laboratories to report incidental findings from genomic tests have stimulated interest in such results. In order investigate the criteria and processes assigning pathogenicity of specific variants estimate frequency patients European African ancestry, we classified potentially actionable pathogenic single-nucleotide (SNVs) all 4300 European- 2203 African-ancestry participants sequenced by NHLBI Exome Sequencing Project (ESP). We considered 112 gene-disease pairs selected...
Unrealistic expectations and uncritical translation of genetic discoveries may undermine other promising approaches to preventing disease improving health.
Split hand/split foot malformation (SHFM) is a heterogeneous limb developmental disorder, characterized by missing digits and fusion of remaining digits. An autosomal dominant form this disorder (SHFM1) has been mapped to 7q21.3-q22.1 on the basis SHFM-associated chromosomal rearrangements. Utilizing YAC contig across region, we have defined critical interval 1.5 Mb analysis six interstitial deletion patients translocation breakpoints seven ectrodactyly within interval. To delineate basic...
Abstract Background Effective translational biomedical research hinges on the operation of 'biobanks,' repositories that assemble, store, and manage collections human specimens related data. Some are established intentionally to address particular needs; many, however, have arisen opportunistically, in a variety settings with expectations regarding their functions longevity. Despite rising prominence, little is known about how biobanks organized function beyond simple classification systems...
We examined the feasibility of using CYP2D6 genotyping to determine optimal tamoxifen dose and investigated whether key active metabolite, endoxifen, could be increased by genotype-guided dosing in patients with intermediate metabolism.One hundred nineteen on 20 mg daily ≥ 4 months not any strong inhibiting medications were assayed for genotype plasma metabolite concentrations. Patients found extensive metabolizers (EM) remained those (IM) or poor (PM) 40 daily. Eighty-nine evaluable had...
Loss-of-function defects in DNA mismatch repair (MMR), which manifest as high levels of microsatellite instability (MSI), occur approximately 15% all colorectal carcinomas (CRCs). This molecular subset CRC characterizes patients with better stage-specific prognoses who experience no benefit from 5-fluorouracil chemotherapy. Most MMR-deficient (dMMR) CRCs are sporadic, but to 20% due inherited predisposition (Lynch syndrome). High penetrance germline MMR gene mutation carriers emphasizes the...
Genome-wide hypothesis-free discovery methods have identified loci that are associated with heavy smoking in adulthood. Research is needed to understand developmental processes link newly discovered genetic risks adult smoking.To test how genome-wide association studies of influence the progression behavior from initiation through conversion daily smoking, nicotine dependence, and struggles cessation.A 38-year, prospective, longitudinal study a representative birth cohort.The Dunedin...
To test how genomic loci identified in genome-wide association studies influence the development of obesity.A 38-year prospective longitudinal study a representative birth cohort.The Dunedin Multidisciplinary Health and Development Study, Dunedin, New Zealand.One thousand thirty-seven male female members.We assessed genetic risk with multilocus score. The score was composed single-nucleotide polymorphisms obesity-related phenotypes. We family history from parent body mass index data...
This paper establishes necessary and sufficient conditions for constraint set stability requiring neither convex functions not sets. These then lead to a sufficiency result the continuity of optimal objective values as right-hand side varies. Applications quasiconvex are presented.
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.
Abstract Purpose: To evaluate germline variants in hereditary cancer susceptibility genes among unselected patients undergoing tumor–germline sequencing. Experimental Design: Germline sequence data from 439 individuals dyad sequencing through the LCCC1108/UNCseq™ (NCT01457196) study were analyzed for genetic 36 genes. These as an exploratory research to determine whether pathogenic exist within of Patients with respect indicators predisposition. Results: Variants indicative predisposition...
Split hand/split foot (ectrodactyly; SHSF) is a human developmental malformation characterized by missing digits and claw-like extremities. An autosomal dominant form of this disorder has been mapped to 7q21.3-q22.1; the locus designated SHFD1. We have constructed physical map consisting overlapping yeast artificial chromosome clones for entire region. Somatic cell hybrid fluorescent in situ hybridization analyses were used define SHSF-associated chromosomal rearrangements twelve patients....
An ongoing dilemma in genomic medicine is balancing the need for scientific innovation with appropriate evidence thresholds moving technology into practice. The current low threshold allows unsubstantiated technologies to enter practice, potential overwhelm health system. Alternatively, establishing an excessively high could slow integration of genomics practice and present disincentives investing research development. Also, variable coverage reimbursement policies can lead differential...