Cargando…

The Return of Actionable Variants Empirical (RAVE) Study, a Mayo Clinic Genomic Medicine Implementation Study: Design and Initial Results

OBJECTIVES: To identify clinically actionable genetic variants from targeted sequencing of 68 disease-related genes, estimate their penetrance, and assess the impact of disclosing results to participants and providers. PATIENTS AND METHODS: The Return of Actionable Variants Empirical (RAVE) Study in...

Descripción completa

Detalles Bibliográficos
Autores principales:	Kullo, Iftikhar J., Olson, Janet, Fan, Xiao, Jose, Merin, Safarova, Maya, Breitkopf, Carmen Radecki, Winkler, Erin, Kochan, David C., Snipes, Sara, Pacyna, Joel E., Carney, Meaghan, Chute, Christopher G., Gupta, Jyoti, Jose, Sheethal, Venner, Eric, Murugan, Mullai, Jiang, Yunyun, Zordok, Magdi, Farwati, Medhat, Philogene, Maraisha, Smith, Erica, Shaibi, Gabriel Q., Caraballo, Pedro, Freimuth, Robert, Lindor, Noralane M., Sharp, Richard, Thibodeau, Stephen N.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	2018
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6652203/ https://www.ncbi.nlm.nih.gov/pubmed/30392543 http://dx.doi.org/10.1016/j.mayocp.2018.06.026

Ejemplares similares

Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study
por: Kochan, David C., et al.
Publicado: (2020)

Returning Genomic Results in a Federally Qualified Health Center: The intersection of precision medicine and social determinants of health.
por: Shaibi, Gabriel Q., et al.
Publicado: (2020)

Raving Rhymes
Publicado: (1854)

An Editor's rave review
por: Elledge, Stephen J.
Publicado: (2023)

Integrating Genomic Screening into Primary Care: Provider Experiences Caring for Latino Patients at a Community-Based Health Center
por: Srinivasan, Tarika, et al.
Publicado: (2021)

Increasing access to individualized medicine: A matched-cohort study examining Latino participant experiences of genomic screening
por: Pacyna, Joel E., et al.
Publicado: (2021)

Defining steps in RAVE-catalyzed V-ATPase assembly using purified RAVE and V-ATPase subcomplexes
por: Jaskolka, Michael C., et al.
Publicado: (2021)

Patient and Provider Perspectives on a Decision Aid for Familial Hypercholesterolemia
por: Farwati, Medhat, et al.
Publicado: (2018)

Cosmic vibes: CERN raves at summer festivals
por: Connie Potter
Publicado: (2016)

WIRED magazine announces rave awards nominees
Publicado: (2002)

El Triunfo RAVE : rapid assessment visual expedition = expedición de valoración visual rápida /
Publicado: (2008)

Actionable Variants Identified by Genome Sequencing: Penetrance and Outcomes at 1-year Following Return to Participants
por: Lee, Christopher, et al.
Publicado: (2021)

Cost-effectiveness of cascade genetic testing for familial hypercholesterolemia in the United States: A simulation analysis
por: Jackson, Candace L., et al.
Publicado: (2021)

Genetic basis of hypercholesterolemia in adults
por: Saadatagah, Seyedmohammad, et al.
Publicado: (2021)

Author Correction: Genetic basis of hypercholesterolemia in adults
por: Saadatagah, Seyedmohammad, et al.
Publicado: (2021)

Imperfect XML: rants, raves, tips, and tricks-- from an insider
por: Megginson, David
Publicado: (2005)

A Clinical Decision Support Tool for Familial Hypercholesterolemia Based on Physician Input
por: Hasnie, Ali A., et al.
Publicado: (2018)

The burden of severe hypercholesterolemia and familial hypercholesterolemia in a population-based setting in the US
por: Saadatagah, Seyedmohammad, et al.
Publicado: (2022)

RAVE DRUG (ECSTASY) AND SELECTIVE SEROTONIN REUPTAKE INHIBITOR ANTI-DEPRESSANTS
por: Singh, A.N., et al.
Publicado: (2000)

Club drugs: review of the ‘rave’ with a note of concern for the Indian scenario
por: Chakraborty, Kaustav, et al.
Publicado: (2011)

The RAVE complex is an isoform-specific V-ATPase assembly factor in yeast
por: Smardon, Anne M., et al.
Publicado: (2014)

RAVE and Rabconnectin-3 Complexes as Signal Dependent Regulators of Organelle Acidification
por: Jaskolka, Michael C., et al.
Publicado: (2021)

How well do whole exome sequencing results correlate with medical findings? A study of 89 Mayo Clinic Biobank samples
por: Middha, Sumit, et al.
Publicado: (2015)

Substance-Related Health Problems during Rave Parties in the Netherlands (1997–2008)
por: Krul, Jan, et al.
Publicado: (2011)

Exploring kinase DFG loop conformational stability with AlphaFold2-RAVE
por: Vani, Bodhi P., et al.
Publicado: (2023)

Familial hypercholesterolemia in Southeast and East Asia
por: Jackson, Candace L., et al.
Publicado: (2021)

RAVE: Comprehensive open-source software for reproducible analysis and visualization of intracranial EEG data
por: Magnotti, John F., et al.
Publicado: (2020)

Rapid Analysis of Vessel Elements (RAVE): A Tool for Studying Physiologic, Pathologic and Tumor Angiogenesis
por: Seaman, Marc E., et al.
Publicado: (2011)

RaveGuard: A Noise Monitoring Platform Using Low-End Microphones and Machine Learning
por: Monti, Lorenzo, et al.
Publicado: (2020)

The hybrid RAVE complex plays V-ATPase-dependent and -independent pathobiological roles in Cryptococcus neoformans
por: Choi, Jin-Tae, et al.
Publicado: (2023)

Substance use, harm reduction attitudes and behaviors among attendees of nature rave parties in Israel
por: Bonny-Noach, Hagit, et al.
Publicado: (2023)

Colorectal cancer and self-reported tooth agenesis
por: Lindor, Noralane M, et al.
Publicado: (2014)

Neutral, Negative, or Negligible? Changes in Patient Perceptions of Disease Risk Following Receipt of a Negative Genomic Screening Result
por: Stuttgen, Kelsey, et al.
Publicado: (2020)

Renal Athersosclerotic reVascularization Evaluation (RAVE Study): Study protocol of a randomized trial [NCT00127738]
por: Tobe, Sheldon W, et al.
Publicado: (2007)

Estimating cumulative risks for breast cancer for carriers of variants in uncommon genes
por: Lindor, Noralane M., et al.
Publicado: (2016)

Virtual raves and happy hours during COVID-19: New drug use contexts for electronic dance music partygoers
por: Palamar, Joseph J., et al.
Publicado: (2021)

Recycling Attitudes and Behavior among a Clinic-Based Sample of Low-Income Hispanic Women in Southeast Texas
por: Pearson, Heidi C., et al.
Publicado: (2012)

Examining the Impact of Polygenic Risk Information in Primary Care
por: Pacyna, Joel E., et al.
Publicado: (2023)

Boon and bane of remission induction with rituximab in ANCA-associated vasculitis: lessons learned from the RAVE-ITN follow-up study
por: Kronbichler, Andreas
Publicado: (2013)

Risk of breast cancer in Lynch syndrome: a systematic review
por: Win, Aung Ko, et al.
Publicado: (2013)

Cannot write session to /tmp/vufind_sessions/sess_ova39fo196tudn2f31dt0lc3nj