Cargando…

InSiGHT leads in the implementation of the Human Variome Project

Detalles Bibliográficos
Autores principales:	Macrae, Finlay, Moslein, Gabriela, Cotton, Richard, Sijmons, Rolf, den Dunnen, Johan, Woods, Michael, Tavtigian, Sean, Jenkins, Mark, Hofstra, Robert, Haile, Robert
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2011
Materias:	Poster Presentation
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3288916/ http://dx.doi.org/10.1186/1897-4287-9-S1-P23

Ejemplares similares

Human variome project – current overview
por: Cotton, Richard
Publicado: (2014)

Collection of variation causing disease - The Human Variome Project
por: Cotton, Richard GH
Publicado: (2009)

Standard development at the Human Variome Project
por: Smith, Timothy D., et al.
Publicado: (2015)

MitoVariome: a variome database of human mitochondrial DNA
por: Lee, Yong Seok, et al.
Publicado: (2009)

The InSiGHT approach to classification of mismatch repair gene variants
por: Plazzer, JP
Publicado: (2012)

InSiGHT 2022 Abstract Publishing and Best Abstract Awards
Publicado: (2022)

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
por: Le Roux, Bastien, et al.
Publicado: (2019)

The variome concept: focus on CNVariome
por: Iourov, Ivan Y., et al.
Publicado: (2019)

The human variome: genomic and epigenomic diversity
por: Choy, Munkit, et al.
Publicado: (2011)

Annotating the biomedical literature for the human variome
por: Verspoor, Karin, et al.
Publicado: (2013)

The variome of pneumococcal virulence factors and regulators
por: Gámez, Gustavo, et al.
Publicado: (2018)

KoVariome: Korean National Standard Reference Variome database of whole genomes with comprehensive SNV, indel, CNV, and SV analyses
por: Kim, Jungeun, et al.
Publicado: (2018)

Identifying Crohn’s disease signal from variome analysis
por: Wang, Yanran, et al.
Publicado: (2019)

PharmaKoVariome database for supporting genetic testing
por: Kim, Jungeun, et al.
Publicado: (2022)

Iron affects localization of Ght5 in fission yeast
por: Akyüz, Sevim Nur, et al.
Publicado: (2023)

Human germline and pan-cancer variomes and their distinct functional profiles
por: Pan, Yang, et al.
Publicado: (2014)

Position statement of the International Society for Gastrointestinal Hereditary Tumours (InSiGHT) on APC I1307K and cancer risk
por: Valle, Laura, et al.
Publicado: (2023)

Meander: visually exploring the structural variome using space-filling curves
por: Pavlopoulos, Georgios A., et al.
Publicado: (2013)

Variomes: a high recall search engine to support the curation of genomic variants
por: Pasche, Emilie, et al.
Publicado: (2022)

Switching to Weekly Lonapegsomatropin from Daily Somatropin in Children with Growth Hormone Deficiency: The fliGHt Trial
por: Maniatis, Aristides K., et al.
Publicado: (2022)

Dictyocaulus viviparus genome, variome and transcriptome elucidate lungworm biology and support future intervention
por: McNulty, Samantha N., et al.
Publicado: (2016)

Mutations Associated with HNPCC Predisposition — Update of ICG-HNPCC/INSiGHT Mutation Database
por: Peltomäki, Päivi, et al.
Publicado: (2004)

Genome resequencing and comparative variome analysis in a Brassica rapa and Brassica oleracea collection
por: Cheng, Feng, et al.
Publicado: (2016)

Development and Psychometric Evaluation of an Instrument Assessing Barriers to Growth Hormone Treatment (BAR-GHT)
por: de Zwaan, Martina, et al.
Publicado: (2020)

Whole genome resequencing of the Iranian native dogs and wolves to unravel variome during dog domestication
por: Amiri Ghanatsaman, Zeinab, et al.
Publicado: (2020)

Weekly Lonapegsomatropin in Treatment–Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial
por: Thornton, Paul S, et al.
Publicado: (2021)

Methyl-SNP-seq reveals dual readouts of methylome and variome at molecule resolution while enabling target enrichment
por: Yan, Bo, et al.
Publicado: (2022)

Time and motion study of familial bowel and breast cancer gene mutational analysis in Victoria, Australia
por: Quin, David, et al.
Publicado: (2011)

Expanding the phenome and variome of the ROBO-SLIT pathway in congenital heart defects: toward improving the genetic testing yield of CHD
por: Jaouadi, Hager, et al.
Publicado: (2023)

Genetic Analysis and Fine Mapping of ZmGHT1 Conferring Glufosinate Herbicide Tolerance in Maize (Zea mays L.)
por: Bao, Jianxi, et al.
Publicado: (2022)

Response to Letter to the Editor From Malozowski: “Weekly Lonapegsomatropin in Treatment-Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial”
por: Thornton, Paul S, et al.
Publicado: (2021)

Intraocular pressure and diurnal fluctuation of open-angle glaucoma and ocular hypertension: a baseline report from the LiGHT China trial cohort
por: Yang, Yangfan, et al.
Publicado: (2023)

OR10-05 Phase 3 FliGHt Trial: Experience of Switching from Daily Growth Hormone Therapy to Once-Weekly TransCon HGH in Children with Growth Hormone Deficiency
por: Maniatis, Aristides K, et al.
Publicado: (2020)

Selective laser trabeculoplasty versus eye drops for first-line treatment of ocular hypertension and glaucoma (LiGHT): a multicentre randomised controlled trial
por: Gazzard, Gus, et al.
Publicado: (2019)

Letter to the Editor From Sävendahl et al.: “Weekly Lonapegsomatropin in Treatment-Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial”
por: Sävendahl, Lars, et al.
Publicado: (2021)

Response to Letter to the Editor From L. Sävendahl et al: “Weekly Lonapegsomatropin in Treatment-Naïve Children With Growth Hormone Deficiency: The Phase 3 heiGHt Trial”
por: Thornton, Paul S, et al.
Publicado: (2021)

Comparative Analyses of Turkish Variome and Widely Used Genomic Variation Databases for the Evaluation of Rare Sequence Variants in Turkish Individuals: Idiopathic Hypogonadotropic Hypogonadism as a Disease Model
por: Kotan, Leman Damla
Publicado: (2022)

Encyclopaedia of tumour-associated familial disorders. Part I: from AIMAH to CHIME syndrome
por: Sijmons, Rolf H
Publicado: (2008)

Statistical analysis plan for the Laser-1st versus Drops-1st for Glaucoma and Ocular Hypertension Trial (LiGHT): a multi-centre randomised controlled trial
por: Vickerstaff, Victoria, et al.
Publicado: (2015)

Erratum to Statistical analysis plan for the Laser-1st versus Drops-1st for Glaucoma and Ocular Hypertension Trial (LiGHT): a multi-centre randomised controlled trial
por: Vickerstaff, Victoria, et al.
Publicado: (2017)

Cannot write session to /tmp/vufind_sessions/sess_073m21fl4f9s9aaf3nvvf1v3uu