Variant-DB: A Tool for Efficiently Exploring Millions of Human Genetic Variants and Their Annotations
暂无分享,去创建一个
[1] Vincenzo Bonifati,et al. Parkinson's Disease: The LRRK2-G2019S mutation: opening a novel era in Parkinson's disease genetics , 2006, European Journal of Human Genetics.
[2] H. Hakonarson,et al. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data , 2010, Nucleic acids research.
[3] Jeroen F. J. Laros,et al. LOVD v.2.0: the next generation in gene variant databases , 2011, Human mutation.
[4] Marek Ostaszewski,et al. Integration and Visualization of Translational Medicine Data for Better Understanding of Human Diseases , 2016, Big Data.
[5] Samik Ghosh,et al. Integrating Pathways of Parkinson's Disease in a Molecular Interaction Map , 2013, Molecular Neurobiology.
[6] Piotr Gawron,et al. MINERVA—a platform for visualization and curation of molecular interaction networks , 2016, npj Systems Biology and Applications.
[7] Adriano Barbosa-Silva,et al. SmartR: an open-source platform for interactive visual analytics for translational research data , 2017, Bioinform..
[8] K. Okamura,et al. Human genetic variation database, a reference database of genetic variations in the Japanese population , 2016, Journal of Human Genetics.
[9] Geert Vandeweyer,et al. Detection and interpretation of genomic structural variation in health and disease , 2013, Expert review of molecular diagnostics.
[10] D. Karolchik,et al. The UCSC Genome Browser database: 2016 update , 2015, bioRxiv.
[11] Mauricio O. Carneiro,et al. From FastQ Data to High‐Confidence Variant Calls: The Genome Analysis Toolkit Best Practices Pipeline , 2013, Current protocols in bioinformatics.
[12] Matthias Mann,et al. Phosphoproteomics reveals that Parkinson's disease kinase LRRK2 regulates a subset of Rab GTPases , 2016, eLife.
[13] Lars Feuk,et al. The Database of Genomic Variants: a curated collection of structural variation in the human genome , 2013, Nucleic Acids Res..
[14] Rong Chen,et al. DIVAS: a centralized genetic variant repository representing 150 000 individuals from multiple disease cohorts , 2015, Bioinform..
[15] Gabor T. Marth,et al. A global reference for human genetic variation , 2015, Nature.
[16] Rong Chen,et al. Integrating 400 million variants from 80,000 human samples with extensive annotations: towards a knowledge base to analyze disease cohorts , 2016, BMC Bioinformatics.
[17] Yike Guo,et al. tranSMART: An Open Source and Community-Driven Informatics and Data Sharing Platform for Clinical and Translational Research , 2013, AMIA Joint Summits on Translational Science proceedings. AMIA Joint Summits on Translational Science.