CSVS, a crowdsourcing database of the Spanish population genetic variability
Published 2020 View Full Article
- Home
- Publications
- Publication Search
- Publication Details
Title
CSVS, a crowdsourcing database of the Spanish population genetic variability
Authors
Keywords
-
Journal
NUCLEIC ACIDS RESEARCH
Volume -, Issue -, Pages -
Publisher
Oxford University Press (OUP)
Online
2020-09-11
DOI
10.1093/nar/gkaa794
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- Exploring human genomic diversity with gnomAD
- (2020) Linda Koch NATURE REVIEWS GENETICS
- A Diagnosis for All Rare Genetic Diseases: The Horizon and the Next Frontiers
- (2019) Kym M. Boycott et al. CELL
- Iranome: A catalogue of genomic variations in the Iranian population
- (2019) Zohreh Fattahi et al. HUMAN MUTATION
- Leveraging crowdsourcing to accelerate global health solutions
- (2019) Sage Davis et al. NATURE BIOTECHNOLOGY
- Leveraging European infrastructures to access 1 million human genomes by 2022
- (2019) Gary Saunders et al. NATURE REVIEWS GENETICS
- Genetic architecture of Meniere’s disease
- (2019) Alvaro Gallego-Martinez et al. HEARING RESEARCH
- PharmGKB: A worldwide resource for pharmacogenomic information
- (2018) Julia M. Barbarino et al. Wiley Interdisciplinary Reviews-Systems Biology and Medicine
- COSMIC: the Catalogue Of Somatic Mutations In Cancer
- (2018) John G Tate et al. NUCLEIC ACIDS RESEARCH
- DNA sequencing technologies: 2006–2016
- (2017) Elaine R Mardis Nature Protocols
- ClinVar: improving access to variant interpretations and supporting evidence
- (2017) Melissa J Landrum et al. NUCLEIC ACIDS RESEARCH
- Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers
- (2016) Aaron M. Wenger et al. GENETICS IN MEDICINE
- 267 Spanish Exomes Reveal Population-Specific Differences in Disease-Related Genetic Variation
- (2016) Joaquín Dopazo et al. MOLECULAR BIOLOGY AND EVOLUTION
- Analysis of protein-coding genetic variation in 60,706 humans
- (2016) Monkol Lek et al. NATURE
- Next-generation genotype imputation service and methods
- (2016) Sayantan Das et al. NATURE GENETICS
- Enrichr: a comprehensive gene set enrichment analysis web server 2016 update
- (2016) Maxim V. Kuleshov et al. NUCLEIC ACIDS RESEARCH
- Population differences in S-warfarin pharmacokinetics among African Americans, Asians and whites: their influence on pharmacogenetic dosing algorithms
- (2016) K Kubo et al. PHARMACOGENOMICS JOURNAL
- Crowdsourcing in biomedicine: challenges and opportunities
- (2015) Ritu Khare et al. BRIEFINGS IN BIOINFORMATICS
- Racial/ethnic differences in drug disposition and response: Review of recently approved drugs
- (2015) A Ramamoorthy et al. CLINICAL PHARMACOLOGY & THERAPEUTICS
- The Matchmaker Exchange: A Platform for Rare Disease Gene Discovery
- (2015) Anthony A. Philippakis et al. HUMAN MUTATION
- Prediction of human population responses to toxic compounds by a collaborative competition
- (2015) Federica Eduati et al. NATURE BIOTECHNOLOGY
- Large-scale whole-genome sequencing of the Icelandic population
- (2015) Daniel F Gudbjartsson et al. NATURE GENETICS
- Rare variant discovery by deep whole-genome sequencing of 1,070 Japanese individuals
- (2015) Masao Nagasaki et al. Nature Communications
- DisGeNET: a discovery platform for the dynamical exploration of human diseases and their genes
- (2015) J. Pinero et al. Database-The Journal of Biological Databases and Curation
- A general framework for estimating the relative pathogenicity of human genetic variants
- (2014) Martin Kircher et al. NATURE GENETICS
- Whole-genome sequence variation, population structure and demographic history of the Dutch population
- (2014) Laurent C Francioli et al. NATURE GENETICS
- Distribution and Medical Impact of Loss-of-Function Variants in the Finnish Founder Population
- (2014) Elaine T. Lim et al. PLoS Genetics
- Deep Whole-Genome Sequencing of 100 Southeast Asian Malays
- (2013) Lai-Ping Wong et al. AMERICAN JOURNAL OF HUMAN GENETICS
- ACMG clinical laboratory standards for next-generation sequencing
- (2013) Heidi L. Rehm et al. GENETICS IN MEDICINE
- Crowdsourcing genetic prediction of clinical utility in the Rheumatoid Arthritis Responder Challenge
- (2013) Robert M Plenge et al. NATURE GENETICS
- Rare-disease genetics in the era of next-generation sequencing: discovery to translation
- (2013) Kym M. Boycott et al. NATURE REVIEWS GENETICS
- Genome Maps, a new generation genome browser
- (2013) Ignacio Medina et al. NUCLEIC ACIDS RESEARCH
- Pathways systematically associated to Hirschsprung’s disease
- (2013) Raquel M Fernández et al. Orphanet Journal of Rare Diseases
- Systematic Analysis of Challenge-Driven Improvements in Molecular Prognostic Models for Breast Cancer
- (2013) A. A. Margolin et al. Science Translational Medicine
- Analysis of the Genetic Basis of Disease in the Context of Worldwide Human Relationships and Migration
- (2013) Erik Corona et al. PLoS Genetics
- Whole-Exome Sequencing Reveals a Rapid Change in the Frequency of Rare Functional Variants in a Founding Population of Humans
- (2013) Ferran Casals et al. PLoS Genetics
- Reconstructing the Population Genetic History of the Caribbean
- (2013) Andrés Moreno-Estrada et al. PLoS Genetics
- Towards an integrated crowdsourcing definition
- (2012) Enrique Estellés-Arolas et al. JOURNAL OF INFORMATION SCIENCE
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Differential confounding of rare and common variants in spatially structured populations
- (2012) Iain Mathieson et al. NATURE GENETICS
- CellBase, a comprehensive collection of RESTful web services for retrieving relevant biological information from heterogeneous sources
- (2012) M. Bleda et al. NUCLEIC ACIDS RESEARCH
- An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People
- (2012) M. R. Nelson et al. SCIENCE
- Improving the Assessment of the Outcome of Nonsynonymous SNVs with a Consensus Deleteriousness Score, Condel
- (2011) Abel González-Pérez et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomics for the world
- (2011) Carlos D. Bustamante et al. NATURE
- The functional spectrum of low-frequency coding variation
- (2011) Gabor T Marth et al. GENOME BIOLOGY
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- Fast model-based estimation of ancestry in unrelated individuals
- (2009) D. H. Alexander et al. GENOME RESEARCH
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
Publish scientific posters with Peeref
Peeref publishes scientific posters from all research disciplines. Our Diamond Open Access policy means free access to content and no publication fees for authors.
Learn MoreCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now