Cargando…

Canadian Open Genetics Repository (COGR): a unified clinical genomics database as a community resource for standardising and sharing genetic interpretations

BACKGROUND: The Canadian Open Genetics Repository is a collaborative effort for the collection, storage, sharing and robust analysis of variants reported by medical diagnostics laboratories across Canada. As clinical laboratories adopt modern genomics technologies, the need for this type of collabor...

Descripción completa

Detalles Bibliográficos
Autores principales:	Lerner-Ellis, Jordan, Wang, Marina, White, Shana, Lebo, Matthew S
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BMJ Publishing Group 2015
Materias:	Screening
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4501169/ https://www.ncbi.nlm.nih.gov/pubmed/25904639 http://dx.doi.org/10.1136/jmedgenet-2014-102933

Ejemplares similares

Delineating the genetic heterogeneity of ALS using targeted high-throughput sequencing
por: Kenna, Kevin P, et al.
Publicado: (2013)

Genetic screening for monogenic hypertension in hypertensive individuals in a clinical setting
por: Bao, Minghui, et al.
Publicado: (2020)

Targeting lung cancer screening to individuals at greatest risk: the role of genetic factors
por: Lebrett, Mikey B, et al.
Publicado: (2021)

Providing recurrence risk counselling for parents after diagnosis of a serious genetic condition caused by an apparently de novo mutation in their child: a qualitative investigation of the PREGCARE strategy with UK clinical genetics practitioners
por: Kay, Alison C, et al.
Publicado: (2023)

Swiss cost-effectiveness analysis of universal screening for Lynch syndrome of patients with colorectal cancer followed by cascade genetic testing of relatives
por: Salikhanov, Islam, et al.
Publicado: (2022)

A Genetic Screen and Transcript Profiling Reveal a Shared Regulatory Program for Drosophila Linker Histone H1 and Chromatin Remodeler CHD1
por: Kavi, Harsh, et al.
Publicado: (2015)

Can a print‐based intervention increase screening for first degree relatives of people with colorectal cancer? A randomised controlled trial
por: Carey, Mariko, et al.
Publicado: (2016)

Risk category system to identify pituitary adenoma patients with AIP mutations
por: Caimari, Francisca, et al.
Publicado: (2018)

Developing better strategies for school eye health screening in India
por: Reddy, Priya Adhisesha, et al.
Publicado: (2017)

Screening for ROP
por: Quinn, Graham, et al.
Publicado: (2017)

Flexible sigmoidoscopy in colorectal cancer screening: implications of different colonoscopy referral strategies
por: Niedermaier, Tobias, et al.
Publicado: (2018)

A systematic review of health promotion interventions to increase breast cancer screening uptake: from the last 12 years
por: Agide, Feleke Doyore, et al.
Publicado: (2018)

Moving towards an organized cervical cancer screening: costs and impact
por: Diaz, Mireia, et al.
Publicado: (2018)

A de novo missense mutation of GABRB2 causes early myoclonic encephalopathy
por: Ishii, Atsushi, et al.
Publicado: (2017)

Effects of screening and universal healthcare on long-term colorectal cancer mortality
por: Lee, Yi-Chia, et al.
Publicado: (2019)

Association of ten gastrointestinal and other medical conditions with positivity to faecal occult blood testing in routine screening: a large prospective study of women in England
por: He, Emily, et al.
Publicado: (2019)

Number of prior negative screening outcomes does not influence future risk of breast cancer
por: Lilleborge, Marie, et al.
Publicado: (2020)

Risk prediction models versus simplified selection criteria to determine eligibility for lung cancer screening: an analysis of German federal-wide survey and incidence data
por: Hüsing, Anika, et al.
Publicado: (2020)

Screening for caregiver psychosocial risk in children with medical complexity: a cross-sectional study
por: Verma, Rahul, et al.
Publicado: (2020)

Validity of self-reported mammography uptake in the Belgian health interview survey: selection and reporting bias
por: Berete, Finaba, et al.
Publicado: (2020)

Costs and effects of conventional vision screening and photoscreening in the Dutch preventive child health care system
por: Van der Ploeg, Catharina P B, et al.
Publicado: (2020)

Quantitative Checklist for Autism in Toddlers (Q-CHAT). A population screening study with follow-up: the case for multiple time-point screening for autism
por: Allison, Carrie, et al.
Publicado: (2021)

Universal language development screening: comparative performance of two questionnaires
por: Wilson, Philip, et al.
Publicado: (2022)

Screening for intimate partner violence during pregnancy: a test accuracy study
por: Zapata-Calvente, Antonella Ludmila, et al.
Publicado: (2022)

Population-based screening in children for early diagnosis and treatment of familial hypercholesterolemia: design of the VRONI study
por: Sanin, Veronika, et al.
Publicado: (2022)

Survey of current policies towards widening cervical screening coverage among vulnerable women in 22 European countries
por: Mallafré-Larrosa, Meritxell, et al.
Publicado: (2023)

Coverage by examinations associated with early detection of colorectal neoplasia in the Czech Republic
por: Ngo, Ondřej, et al.
Publicado: (2023)

The impact of influences in a medical screening programme invitation: a randomized controlled trial
por: Jauernik, Christian Patrick, et al.
Publicado: (2023)

Long-term neurodevelopmental outcome in children born after vacuum-assisted delivery compared with second-stage caesarean delivery and spontaneous vaginal delivery: a cohort study
por: Romero, Stefhanie, et al.
Publicado: (2023)

A targeted genetic modifier screen in Drosophila uncovers vulnerabilities in a genetically complex model of colon cancer
por: Datta, Ishwaree, et al.
Publicado: (2023)

The Genetic Requirements for Pentose Fermentation in Budding Yeast
por: Mittelman, Karin, et al.
Publicado: (2017)

A Genetic Screen for Functional Partners of Condensin in Fission Yeast
por: Robellet, Xavier, et al.
Publicado: (2013)

Identification of the Genetic Requirements for Zinc Tolerance and Toxicity in Saccharomyces cerevisiae
por: Zhao, Yun-ying, et al.
Publicado: (2019)

The Genetic and Physical Interactomes of the Saccharomyces cerevisiae Hrq1 Helicase
por: Rogers, Cody M., et al.
Publicado: (2020)

A Genetic Screen for Saccharomyces cerevisiae Mutants That Fail to Enter Quiescence
por: Li, Lihong, et al.
Publicado: (2015)

Genetic Regulation of Dna2 Localization During the DNA Damage Response
por: Yimit, Askar, et al.
Publicado: (2015)

A Forward Genetic Screen for Suppressors of Somatic P Granules in Caenorhabditis elegans
por: Kelly, Ashley L., et al.
Publicado: (2015)

Forward Genetic Screen for Caenorhabditis elegans Mutants with a Shortened Locomotor Healthspan
por: Kawamura, Kazuto, et al.
Publicado: (2019)

A Genetic Screen for Human Genes Suppressing FUS Induced Toxicity in Yeast
por: Hayden, Elliott, et al.
Publicado: (2020)

A genetic screen for temperature-sensitive morphogenesis-defective Caenorhabditis elegans mutants
por: Jud, Molly C, et al.
Publicado: (2021)

Cannot write session to /tmp/vufind_sessions/sess_io18otjifuhk1u8goinum56pik