Genetics and genomics

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

DBDS Genomic Cohort, a prospective and comprehensive resource for integrative and temporal analysis of genetic, environmental and lifestyle factors affecting health of blood donors

Thomas Folkmann Hansen, Karina Banasik, Christian Erikstrup, Ole Birger Pedersen, David Westergaard, Piotr Jaroslaw Chmura, Kaspar Nielsen, Lise Thørner, Henrik Hjalgrim, Helene Paarup, Margit Anita Hørup Larsen, Mikkel Petersen, Poul Jennum, Steffen Andersen, Mette Nyegaard, Gregor Borut Ernst Jemec, Jes Olesen, Thomas Werge, Pär I Johansson, Erik Sørensen, Søren Brunak, Henrik Ullum, Kristoffer Sølvsten Burgdorf

10.1136/bmjopen-2018-028401

June 9, 2019

Genetic associations between genes in the renin-angiotensin-aldosterone system and renal disease: a systematic review and meta-analysis

Laura Jane Smyth, Marisa Cañadas-Garre, Ruaidhri C Cappa, Alexander P Maxwell, Amy Jayne McKnight

10.1136/bmjopen-2018-026777

May 1, 2019

Genetic components of human pain sensitivity: a protocol for a genome-wide association study of experimental pain in healthy volunteers

Annina B Schmid, Kaustubh Adhikari, Luis Miguel Ramirez-Aristeguieta, Juan-Camilo Chacón-Duque, Giovanni Poletti, Carla Gallo, Francisco Rothhammer, Gabriel Bedoya, Andres Ruiz-Linares, David L Bennett

10.1136/bmjopen-2018-025530

April 20, 2019

Genome-wide association study of suicide attempt in a Mexican population: a study protocol

Thelma Beatriz González-Castro, Alma Delia Genis-Mendoza, Carlos Alfonso Tovilla-Zárate, José Jaime Martínez-Magaña, Isela Esther Juárez-Rojop, Emmanuel Sarmiento, Humberto Nicolini

10.1136/bmjopen-2018-025335

April 11, 2019