Advertisement

Browse Subject Areas

?

Click through the PLOS taxonomy to find articles in your field.

For more information about PLOS Subject Areas, click here.

Genetic testing

Performance of PREMM5, clinical criteria, and immunohistochemistry for MMR proteins in genetic risk assessment of Mexican patients with colorectal cancer

José Luis Rodríguez-Olivares, Dione Aguilar-y-Méndez, Tamara N. Kimball, Pamela Rivero-García, Javier Rios-Valencia, Sandra Santuario-Facio, Augusto Rojas-Martinez, Rocío Ortiz-López, Angélica Leticia Barraza-Arellano, Alejandro Aranda-Gutierrez, Jazmín Arteaga-Vazquez, Héctor De-La-Mora-Molina, Josef Herzog, Joanne M. Jeter, Jeffrey N. Weitzel, Yanin Chávarri-Guerra

published 04 Aug 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Genetic yield of next-generation sequencing for detecting monogenic familial hypercholesterolemia in uzbek patients with coronary artery disease

Rano B. Alieva, Aleksandr B. Shek, Anastasiya V. Bahachova, Khurshid G. Fozilov, Guzal J. Abdullaeva, Alisher A. Abdullaev, Lilya E. Kan, Shavkat U. Khoshimov, Andrey R. Kim, Ulugbek I. Nizamov, Dilnora B. Yusupalieva

published 09 Jul 2026

Loading metrics information...

Metrics unavailable. Please check back later.

A clinical pilot study for personalized risk-based breast cancer screening utilizing a polygenic risk score

Tone Hovda, Siim Sober, Peeter Padrik, Krista Kruuv-Kao, Eli Marie Grindedal, Tone Bøe Aaman Vamre, Eline Eikeland, Solveig Hofvind, Kristine Kleivi Sahlberg

published 08 Jul 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Awareness, attitudes, and barriers toward Transthyretin Amyloid Cardiomyopathy in Latin America: A questionnaire-based cross-sectional study

Cecilia Camacho-Hubner, Marcia Waddington-Cruz, María Juliana Rodríguez-González, Marcus Vinicius Simões, Juan David López-Ponce de León, Fabio Fernandes, Erika María Martínez-Carreño, Juan Pablo Costabel, Enrique A. Berrios-Bárcenas, Fabio Barroso, José Angel Cigarroa López, Rosa Ortega Reyes, Jaime Alvarez, Diego Pérez de Arenaza, Diana Buitrago, Constanza Otero, Claudenice Leite Bertoli de Souza, Juan Sebastián Molina Gómez, Guilherme Silva Julian

published 26 Jun 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Cost-effectiveness of pre-emptive pharmacogenetic testing: An umbrella review

Taichi Ochi, Manon G. den Uil, Greta Piazza, Geert W. J. Frederix, Eelko Hak, Vera H. M. Deneer, Talitha L. Feenstra

published 16 Jun 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Parental acceptability of newborn screening expansion in the genomic era: A nationwide French survey informed by the Theoretical Framework of Acceptability (SeDeN-p3)

Camille Level, Laurence Faivre, Margot Lemaitre, Dominique Salvi, Isabelle Marchetti-Waternaux, Elisabeth Cudry, Emmanuel Simon, Nicolas Bourgon, Alexandra Benachi, Nhut-Thanh Van, Camille Coppola, Christine Binquet, Christel Thauvin-Robinet, Frédéric Huet, Christine Peyron

published 15 Jun 2026

Loading metrics information...

Metrics unavailable. Please check back later.

The impact of uncertainty on disclosure of prenatal exome sequencing results: A vignette study among medical students

Jasmijn E. Klapwijk, Vyne Van der Schoot, Marike G. Polak, Stina Lou, Ida Vogel, Iris M. Jansen-Bakkeren, Karin E. M. Diderich, Katinka Dijkstra, Sam R. Riedijk

published 14 May 2026

Loading metrics information...

Metrics unavailable. Please check back later.

WGS identifies Lynch syndrome (LS) patients and uncovers a large family with MSH2-related LS in Southern Thailand

Worrawit Wanitsuwan, Kanet Kanjanapradit, Supakool Jearanai, Yuthasak Suphasynth, Pongsatorn Supaattagorn, Sukanya Vijasika, Surasak Wanram, Chumpol Ngamphiw, Vorthunju Nakhonsri, Sissades Tongsima, Palakorn Satsue, Natnaree Sangkeaw, Sukanya Horpaopan

published 11 May 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Using deep learning to identify inherited retinal diseases based on wide-field retinal imaging data

Leo Joskowicz, Tim Buchbinder, Eldan Chodorov, Assaf Hoogi, Katherine Matos, Antonio Rivera, Dror Sharon, Eyal Banin, Jaime Levy

published 11 May 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Genetic testing in individuals with extreme HDL-C levels: Diagnostic yield and clinical implications from the Tromsø Study

Åsa Schawlann Ølnes, Marianne Teigen, Thea Bismo Strøm, Erik Kristoffer Arnesen, Antoine Rimbert, Anne Elise Eggen, Katrine Bjune

published 20 Apr 2026

Loading metrics information...

Metrics unavailable. Please check back later.

Prevalence and genotypic distribution of non-epidermolytic ichthyosis in Italian Golden Retrievers

Maria Grazia De Iorio, Michele Polli, Sara Ghilardi, Stefano Frattini, Mara Bagardi, Alessandra Paganelli, Maria Cristina Cozzi, Kenza Seghrouchni, Paola Giuseppina Brambilla, Giulietta Minozzi

published 24 Mar 2026

Loading metrics information...

Metrics unavailable. Please check back later.

The socioeconomic impact of inherited retinal dystrophies (IRDs) in Belgium: A cost-of-illness study

Ine Vandersmissen, Janice Geers, Tom Denee, Salla Oinasmaa, Dagmar Hoeben, Xinyi Zhang, Burcak Aydin, Simone Cheung, Lorenzo Billiet, Inge Joniau, Avril Daly, Steven Simoens, Bart P. Leroy

published 27 Jan 2026

Loading metrics information...

Metrics unavailable. Please check back later.

To test or not to test? Study protocol for a best-worst scaling to understand decision-making and preferences for genetic testing in moderate-risk individuals

Carina Oedingen, Nicolle Hua, Karen V. MacDonald, Julien Marcadier, Renee Perrier, Lindsay Tuer, Brenda McInnes, Francois Bernier, Deborah A. Marshall

published 29 Dec 2025

Loading metrics information...

Metrics unavailable. Please check back later.

Advertisement

Create a weekly email alert for: Genetic testing

You can change these options by clicking profile then "Alerts and Notifications"