Results 1 to 10 of about 169,151 (235)

A Novel Approach Using Microarray Testing as a Screening Method with Clinical Validation Using Whole-Genome Sequencing and Karyotyping for Identifying 46,XX Testicular Differences of Sex Development [PDF]

Diagnostics
Background: Microarray testing is commonly used as a screening method for phenotypic traits and common diseases and for genome-wide association studies (GWASs).
Takeshi Ozeki, Yuka Nakano, Ayumu Ishigaki, Yoichi Kawashima, Charles W. Crawford, David D. Ordinario, Iri Sato-Baran, Toshihiko Higashida   +7 more
doaj   +2 more sources

Non-Invasive Prenatal Testing (NIPT): A Paradigm Shift in Prenatal Care [PDF]

International Journal of Preventive Medicine
Prenatal screening has undergone a profound transformation with the emergence of Non-Invasive Prenatal Testing (NIPT), a technology that analyzes cell-free fetal DNA (cffDNA) in maternal blood to detect common chromosomal abnormalities.
Ram K. Garg, Yogesh Kumar, Ram Niwas, Jitendra Singh   +3 more
doaj   +2 more sources

Willingness to test for BRCA1/2 in high risk women: Influenced by risk perception and family experience, rather than by objective or subjective numeracy? [PDF]

Judgment and Decision Making, 2015
Genetic testing for breast and ovarian cancer can help target prevention programs, and possibly reduce morbidity and mortality. A positive result of BRCA1/2 is a substantial risk factor for breast and ovarian cancer, and its detection often leads to risk
Talya Miron-Shatz, Yaniv Hanoch, Benjamin A. Katz, Glen M. Doniger, Elissa M. Ozanne   +4 more
doaj   +2 more sources

Sperm donor attitudes and experiences with direct-to-consumer genetic testing

F&S Reports, 2023
Objective: To identify factors influencing sperm donor willingness to participate in direct-to-consumer genetic testing, comfort with sharing genetically identifiable data in commercial genetic testing databases, and likelihood to donate sperm again ...
Sascha Wodoslawsky, B.A., Joy Fatunbi, M.D., Rebecca Mercier, M.D., M.P.H., Andrea Mechanick Braverman, Ph.D.   +3 more
doaj   +1 more source

Barriers and Facilitators for Population Genetic Screening in Healthy Populations: A Systematic Review

Frontiers in Genetics, 2022
Studies suggest that 1–3% of the general population in the United States unknowingly carry a genetic risk factor for a common hereditary disease. Population genetic screening is the process of offering otherwise healthy patients in the general population
Emily C. Shen, Emily C. Shen, Swetha Srinivasan, Lauren E. Passero, Caitlin G. Allen, Madison Dixon, Kimberly Foss, Brianna Halliburton, Laura V. Milko, Amelia K. Smit, Amelia K. Smit, Rebecca Carlson, Megan C. Roberts   +12 more
doaj   +1 more source

Extended Family Outreach in Hereditary Cancer Using Web-Based Genealogy, Direct-to-Consumer Ancestry Genetics, and Social Media: Mixed Methods Process Evaluation of the ConnectMyVariant Intervention

JMIR Cancer, 2023
BackgroundCascade screening, defined as helping at-risk relatives get targeted genetic testing of familial variants for dominant hereditary cancer syndromes, is a proven component of cancer prevention; however, its uptake is low ...
Annie T Chen, Jennifer Huey, Sandra Coe, Jailanie Kaganovsky, Emily A Malouf, Heather D Evans, Jill Daker, Elizabeth Harper, Olivia Fordiani, Emma E Lowe, Caileigh McGraw Oldroyd, Ashlyn Price, Kristlynn Roth, Julie Stoddard, Jill N Crandell, Brian H Shirts   +15 more
doaj   +1 more source

Genetics and athletic performance: a systematic SWOT analysis of non-systematic reviews

Frontiers in Genetics, 2023
Exercise genetics/genomics is a growing research discipline comprising several Strengths and Opportunities but also deals with Weaknesses and Threats.
Magdalena Johanna Konopka, Magdalena Johanna Konopka, Billy Sperlich, Gerard Rietjens, Maurice Petrus Zeegers, Maurice Petrus Zeegers, Maurice Petrus Zeegers   +6 more
doaj   +1 more source

Health outcomes and experiences of direct-to-consumer high-intensity screening using both whole-body magnetic resonance imaging and cardiological examination.

PLoS ONE, 2020
BackgroundAlongside a clinical and research setting, whole body magnetic resonance imaging (WB-MRI) is increasingly offered as a direct-to-consumer screening service.
Daniel Hommes, Derk Klatte, Wilma Otten, Maaike Beltman, Günter Klass, Aria Zand, René Sprangers   +6 more
doaj   +1 more source

COMBINING GENERATIONAL GENETIC AND LP(A) CASCADE TESTING TO PREDICT LP(A) AND ASSOCIATED CARDIOVASCULAR DISEASE (CVD) RISK IN YOUNG ADULTS

American Journal of Preventive Cardiology, 2023
Therapeutic Area: ASCVD/CVD Risk Assessment Background: Like Familial Hypercholesterolemia (FH), Lp(a) ≥300nmol/L is associated with 3-4-fold increased cardiovascular risk but is more common.
Jamal A Anthony, Tatiana Echeverry, Robert D Fishberg   +2 more
doaj   +1 more source

Core issues, case studies, and the need for expanded Legacy African American genomics

Frontiers in Genetics, 2023
Introduction: Genomic studies of Legacy African Americans have a tangled and convoluted history in western science. In this review paper, core issues affecting African American genomic studies are addressed and two case studies, the New York African ...
Fatimah Jackson, Carter Clinton, Jennifer Caldwell   +2 more
doaj   +1 more source