Cargando…

A comprehensive global genotype–phenotype database for rare diseases

BACKGROUND: The ability to discover genetic variants in a patient runs far ahead of the ability to interpret them. Databases with accurate descriptions of the causal relationship between the variants and the phenotype are valuable since these are critical tools in clinical genetic diagnostics. Here,...

Descripción completa

Detalles Bibliográficos
Autores principales:	Trujillano, Daniel, Oprea, Gabriela‐Elena, Schmitz, Yvonne, Bertoli‐Avella, Aida M., Abou Jamra, Rami, Rolfs, Arndt
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	John Wiley and Sons Inc. 2016
Materias:	Original Articles
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5241210/ https://www.ncbi.nlm.nih.gov/pubmed/28116331 http://dx.doi.org/10.1002/mgg3.262

Ejemplares similares

Development of an evidence-based algorithm that optimizes sensitivity and specificity in ES-based diagnostics of a clinically heterogeneous patient population
por: Bauer, Peter, et al.
Publicado: (2018)

Genotype-phenotype correlations of cystic fibrosis in siblings compound heterozygotes for rare variant combinations: Review of literature and case report
por: Tkemaladze, Tinatin, et al.
Publicado: (2022)

Clinical exome sequencing: results from 2819 samples reflecting 1000 families
por: Trujillano, Daniel, et al.
Publicado: (2017)

Genotype–Phenotype Correlation in a New Fabry-Disease-Causing Mutation
por: Čerkauskaitė, Agnė, et al.
Publicado: (2019)

PhenoDis: a comprehensive database for phenotypic characterization of rare cardiac diseases
por: Adler, Angela, et al.
Publicado: (2018)

The Mouse Genome Database genotypes::phenotypes
por: Blake, Judith A., et al.
Publicado: (2009)

Novel clinical and genetic insight into CXorf56-associated intellectual disability
por: Rocha, Maria Eugenia, et al.
Publicado: (2019)

Exome first approach to reduce diagnostic costs and time – retrospective analysis of 111 individuals with rare neurodevelopmental disorders
por: Klau, Julia, et al.
Publicado: (2021)

PhenDisco: phenotype discovery system for the database of genotypes and phenotypes
por: Doan, Son, et al.
Publicado: (2014)

Routine Diagnostics Confirm Novel Neurodevelopmental Disorders
por: Jauss, Robin-Tobias, et al.
Publicado: (2022)

Microbial contamination and composition of oral samples subjected to clinical whole genome sequencing
por: Kumar, Abhishek, et al.
Publicado: (2023)

Rare variants in the GABA(A) receptor subunit ε identified in patients with a wide spectrum of epileptic phenotypes
por: Markus, Fenja, et al.
Publicado: (2020)

Re-evaluation and re-analysis of 152 research exomes five years after the initial report reveals clinically relevant changes in 18%
por: Bartolomaeus, Tobias, et al.
Publicado: (2023)

Genotype-Phenotype Correlation of a Rare Transthyretin Variant Causing Amyloidosis
por: Chaudhary, Ammar G., et al.
Publicado: (2022)

Rare among Rare: Phenotypes of Uncommon CMT Genotypes
por: Gentile, Luca, et al.
Publicado: (2021)

Integration of curated databases to identify genotype-phenotype associations
por: Goh, Chern-Sing, et al.
Publicado: (2006)

NCBI’s Database of Genotypes and Phenotypes: dbGaP
por: Tryka, Kimberly A., et al.
Publicado: (2014)

Genetics of autosomal recessive intellectual disability
por: Jamra, Rami
Publicado: (2018)

Idiopathic Small Fiber Neuropathy: Phenotype, Etiologies, and the Search for Fabry Disease
por: Samuelsson, Kristin, et al.
Publicado: (2014)

Novel pathogenic variants and multiple molecular diagnoses in neurodevelopmental disorders
por: Trinh, Joanne, et al.
Publicado: (2019)

Global Genotype-Phenotype Correlations in Pseudomonas aeruginosa
por: Pommerenke, Claudia, et al.
Publicado: (2010)

The Mouse Genome Database: Genotypes, Phenotypes, and Models of Human Disease
por: Bult, Carol J., et al.
Publicado: (2013)

PhenoScanner: a database of human genotype–phenotype associations
por: Staley, James R., et al.
Publicado: (2016)

IthaPhen: An Interactive Database of Genotype-Phenotype Data for Hemoglobinopathies
por: Xenophontos, Maria, et al.
Publicado: (2023)

Reply letter to Battke et al.
por: Bertoli-Avella, Aida M., et al.
Publicado: (2021)

Global and regional circulation trends of norovirus genotypes and recombinants, 1995–2019: A comprehensive review of sequences from public databases
por: Kendra, Joseph A., et al.
Publicado: (2022)

A scalable, aggregated genotypic–phenotypic database for human disease variation
por: Barrett, Ryan, et al.
Publicado: (2019)

GPCards: An integrated database of genotype–phenotype correlations in human genetic diseases
por: Li, Bin, et al.
Publicado: (2021)

P1377: TRANSCRIPTOME-WIDE ANALYSIS OF T CELLS DURING EX VIVO EXPANSION AS PER CURRENT CAR T CELL MANUFACTURING PROTOCOL REVEALS SPECIFIC CHANGES IN T CELL SIGNALING AND HOMING
por: Sudarsanam, Harish, et al.
Publicado: (2023)

The Zebrafish Information Network: the zebrafish model organism database provides expanded support for genotypes and phenotypes
por: Sprague, Judy, et al.
Publicado: (2008)

SPATA5 mutations cause a distinct autosomal recessive phenotype of intellectual disability, hypotonia and hearing loss
por: Buchert, Rebecca, et al.
Publicado: (2016)

Expanding genotype/phenotype of neuromuscular diseases by comprehensive target capture/NGS
por: Tian, Xia, et al.
Publicado: (2015)

A comprehensive dataset of Avena sativa L. landraces phenotypes and genotype
por: Dziubińska, Dorota, et al.
Publicado: (2022)

Secondary findings in a large Pakistani cohort tested with whole genome sequencing
por: Skrahin, Aliaksandr, et al.
Publicado: (2023)

GestaltMatcher Database - a FAIR database for medical imaging data of rare disorders
por: Lesmann, Hellen, et al.
Publicado: (2023)

Using variant databases for variant prioritization and to detect erroneous genotype-phenotype associations
por: Broeckx, Bart J. G., et al.
Publicado: (2017)

Gephebase, a database of genotype–phenotype relationships for natural and domesticated variation in Eukaryotes
por: Courtier-Orgogozo, Virginie, et al.
Publicado: (2020)

PheLiGe: an interactive database of billions of human genotype–phenotype associations
por: Shashkova, Tatiana I, et al.
Publicado: (2020)

Arabidopsis Hormone Database: a comprehensive genetic and phenotypic information database for plant hormone research in Arabidopsis
por: Peng, Zhi-yu, et al.
Publicado: (2009)

SPSmart: adapting population based SNP genotype databases for fast and comprehensive web access
por: Amigo, Jorge, et al.
Publicado: (2008)

Cannot write session to /tmp/vufind_sessions/sess_nfuq3p25gjh3nhdnn5ctcr8s7e