标题
The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
作者
关键词
-
出版物
HUMAN MUTATION
Volume 36, Issue 10, Pages 915-921
出版商
Wiley
发表日期
2015-08-13
DOI
10.1002/humu.22858
参考文献
相关参考文献
注意:仅列出部分参考文献,下载原文获取全部文献信息。- Cafe Variome: General-Purpose Software for Making Genotype-Phenotype Data Discoverable in Restricted or Open Access Contexts
- (2015) Owen Lancaster et al. HUMAN MUTATION
- Data Sharing in the Undiagnosed Diseases Network
- (2015) Catherine A. Brownstein et al. HUMAN MUTATION
- Participant-Driven Matchmaking in the Genomic Era
- (2015) Katherine F. Lambertson et al. HUMAN MUTATION
- The Genomic Birthday Paradox: How Much Is Enough?
- (2015) Peter Krawitz et al. HUMAN MUTATION
- Mitigating False-Positive Associations in Rare Disease Gene Discovery
- (2015) Sebastian Akle et al. HUMAN MUTATION
- New Tools for Mendelian Disease Gene Identification: PhenoDB Variant Analysis Module; and GeneMatcher, a Web-Based Tool for Linking Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- Facilitating Collaboration in Rare Genetic Disorders Through Effective Matchmaking in DECIPHER
- (2015) Eleni A. Chatzimichali et al. HUMAN MUTATION
- Matching Two Independent Cohorts ValidatesDPH1as a Gene Responsible for Autosomal Recessive Intellectual Disability with Short Stature, Craniofacial, and Ectodermal Anomalies
- (2015) Catrina M. Loucks et al. HUMAN MUTATION
- NovelCOL2A1Variant (c.619G>A, p.Gly207Arg) Manifesting as a Phenotype Similar to Progressive Pseudorheumatoid Dysplasia and Spondyloepiphyseal Dysplasia, Stanescu Type
- (2015) Julie Jurgens et al. HUMAN MUTATION
- GenomeConnect: Matchmaking Between Patients, Clinical Laboratories, and Researchers to Improve Genomic Knowledge
- (2015) Brianne E. Kirkpatrick et al. HUMAN MUTATION
- Innovative Genomic Collaboration Using the GENESIS (GEM.app) Platform
- (2015) Michael Gonzalez et al. HUMAN MUTATION
- The Matchmaker Exchange API: Automating Patient Matching Through the Exchange of Structured Phenotypic and Genotypic Profiles
- (2015) Orion J. Buske et al. HUMAN MUTATION
- PhenomeCentral: A Portal for Phenotypic and Genotypic Matchmaking of Patients with Rare Genetic Diseases
- (2015) Orion J. Buske et al. HUMAN MUTATION
- Use of Model Organism and Disease Databases to Support Matchmaking for Human Disease Gene Discovery
- (2015) Christopher J. Mungall et al. HUMAN MUTATION
- GeneMatcher: A Matching Tool for Connecting Investigators with an Interest in the Same Gene
- (2015) Nara Sobreira et al. HUMAN MUTATION
- GeneMatcher Aids in the Identification of a New Malformation Syndrome with Intellectual Disability, Unique Facial Dysmorphisms, and Skeletal and Connective Tissue Abnormalities Caused by De Novo Variants inHNRNPK
- (2015) P. Y. Billie Au et al. HUMAN MUTATION
- Effective diagnosis of genetic disease by computational phenotype analysis of the disease-associated genome
- (2014) T. Zemojtel et al. Science Translational Medicine
- Improved exome prioritization of disease genes through cross-species phenotype comparison
- (2013) P. N. Robinson et al. GENOME RESEARCH
- GEnomes Management Application (GEM.app): A New Software Tool for Large-Scale Collaborative Genome Analysis
- (2013) Michael A. Gonzalez et al. HUMAN MUTATION
- The Cancer Genome Atlas Pan-Cancer analysis project
- (2013) John N Weinstein et al. NATURE GENETICS
- DECIPHER: web-based, community resource for clinical interpretation of rare variants in developmental disorders
- (2012) G. J. Swaminathan et al. HUMAN MOLECULAR GENETICS
- International Cancer Genome Consortium Data Portal--a one-stop shop for cancer genomics data
- (2011) J. Zhang et al. Database-The Journal of Biological Databases and Curation
- PheWAS: demonstrating the feasibility of a phenome-wide scan to discover gene-disease associations
- (2010) J. C. Denny et al. BIOINFORMATICS
- Linking Human Diseases to Animal Models Using Ontology-Based Phenotype Annotation
- (2009) Nicole L. Washington et al. PLOS BIOLOGY
- Genetic Mapping in Human Disease
- (2008) D. Altshuler et al. SCIENCE
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationAdd your recorded webinar
Do you already have a recorded webinar? Grow your audience and get more views by easily listing your recording on Peeref.
Upload Now