Genetics and genomics

Does geographical variation confound the relationship between host factors and the human gut microbiota: a population-based study in China

Shan Sun, Huijun Wang, Matthew CB Tsilimigras, Annie Green Howard, Wei Sha, Jiguo Zhang, Chang Su, Zhihong Wang, Shufa Du, Michael Sioda, Farnaz Fouladi, Anthony Fodor, Penny Gordon-Larsen, Bing Zhang

10.1136/bmjopen-2020-038163

November 19, 2020

Randomised multicentre clinical trial to evaluate voriconazole pre-emptive genotyping strategy in patients with risk of aspergillosis: vorigenipharm study protocol

Jaime Monserrat Villatoro, Irene García García, David Bueno, Rafael de la Cámara, Miriam Estébanez, Ana López de la Guía, Francisco Abad-Santos, Cristina Antón, Gina Mejía, María José Otero, Elena Ramírez García, Jesús Frías Iniesta, Antonio Carcas, Alberto M Borobia

10.1136/bmjopen-2020-037443

October 1, 2020

Implementing a pharmacogenetic-driven algorithm to guide dual antiplatelet therapy (DAPT) in Caribbean Hispanics: protocol for a non-randomised clinical trial

Dagmar F Hernandez-Suarez, Kyle Melin, Frances Marin-Maldonado, Hector J Nunez, Ariel F Gonzalez, Lorena Gonzalez-Sepulveda, Sona Rivas-Tumanyan, Hetanshi Naik, Gualberto Ruaño, Stuart A Scott, Jorge Duconge

10.1136/bmjopen-2020-038936

August 6, 2020

When to break the news and whose responsibility is it? A cross-sectional qualitative study of health professionals’ views regarding disclosure of BRCA genetic cancer risk

Alison Luk Young, Phyllis N Butow, Katherine M Tucker, Claire E Wakefield, Emma Healey, Rachel Williams

10.1136/bmjopen-2019-033127

February 25, 2020

Delivering genome sequencing in clinical practice: an interview study with healthcare professionals involved in the 100 000 Genomes Project

Saskia C Sanderson, Melissa Hill, Christine Patch, Beverly Searle, Celine Lewis, Lyn S Chitty

10.1136/bmjopen-2019-029699

November 3, 2019

Health outcomes, utility and costs of returning incidental results from genomic sequencing in a Canadian cancer population: protocol for a mixed-methods randomised controlled trial

Salma Shickh, Marc Clausen, Chloe Mighton, Mariana Gutierrez Salazar, Kathleen-Rose Zakoor, Rita Kodida, Emma Reble, Christine Elser, Andrea Eisen, Seema Panchal, Melyssa Aronson, Tracy Graham, Susan Randall Armel, Chantal F Morel, Ramzi Fattouh, Emily Glogowski, Kasmintan A Schrader, Jada G Hamilton, Kenneth Offit, Mark Robson, June C Carroll, Wanrudee Isaranuwatchai, Raymond H Kim, Jordan Lerner-Ellis, Kevin E Thorpe, Andreas Laupacis, Yvonne Bombard

10.1136/bmjopen-2019-031092

October 7, 2019

Psychosocial problems in women attending French, German and Spanish genetics clinics before and after targeted or multigene testing results: an observational prospective study

Anne Brédart, Jean-Luc Kop, Julia Dick, Alejandra Cano, Antoine De Pauw, Amélie Anota, Joan Brunet, Peter Devilee, Dominique Stoppa-Lyonnet, Rita Schmutzler, Sylvie Dolbeault

10.1136/bmjopen-2019-029926

September 24, 2019

Comprehensive evaluation of a prospective Australian patient cohort with suspected genetic kidney disease undergoing clinical genomic testing: a study protocol

Kushani Jayasinghe, Zornitza Stark, Chirag Patel, Amali Mallawaarachchi, Hugh McCarthy, Randall Faull, Aron Chakera, Madhivanan Sundaram, Matthew Jose, Peter Kerr, You Wu, Louise Wardrop, Ilias Goranitis, Stephanie Best, Melissa Martyn, Catherine Quinlan, Andrew J Mallett

10.1136/bmjopen-2019-029541

August 5, 2019

Protocol for the development of the STrengthening the Reporting Of Pharmacogenetic Studies (STROPS) guideline: checklist of items for reporting pharmacogenetic studies

Marty Richardson, Jamie J Kirkham, Kerry M Dwan, Derek J Sloan, Geraint Davies, Andrea Jorgensen

10.1136/bmjopen-2019-030212

July 11, 2019

A tailored approach towards informing relatives at risk of inherited cardiac conditions: study protocol for a randomised controlled trial

Lieke M van den Heuvel, Yvonne M Hoedemaekers, Annette F Baas, J Peter van Tintelen, Ellen M A Smets, Imke Christiaans

10.1136/bmjopen-2018-025660

July 9, 2019