Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline
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Title
Prioritizing Disease-Linked Variants, Genes, and Pathways with an Interactive Whole-Genome Analysis Pipeline
Authors
Keywords
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Journal
HUMAN MUTATION
Volume 35, Issue 5, Pages 537-547
Publisher
Wiley
Online
2014-01-29
DOI
10.1002/humu.22520
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Note: Only part of the references are listed.- Towards a Universal Clinical Genomics Database: The 2012 International Standards for Cytogenomic Arrays Consortium Meeting
- (2013) Erin Rooney Riggs et al. HUMAN MUTATION
- Sequencing studies in human genetics: design and interpretation
- (2013) David B. Goldstein et al. NATURE REVIEWS GENETICS
- Rare Complete Knockouts in Humans: Population Distribution and Significant Role in Autism Spectrum Disorders
- (2013) Elaine T. Lim et al. NEURON
- Population Genetic Inference from Personal Genome Data: Impact of Ancestry and Admixture on Human Genomic Variation
- (2012) Jeffrey M. Kidd et al. AMERICAN JOURNAL OF HUMAN GENETICS
- gSearch: a fast and flexible general search tool for whole-genome sequencing
- (2012) T. Song et al. BIOINFORMATICS
- VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment
- (2012) Lukas Habegger et al. BIOINFORMATICS
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Taxonomizing, sizing and overcoming the incidentalome
- (2012) Isaac S. Kohane et al. GENETICS IN MEDICINE
- wANNOVAR: annotating genetic variants for personal genomes via the web
- (2012) Xiao Chang et al. JOURNAL OF MEDICAL GENETICS
- Analysis of 6,515 exomes reveals the recent origin of most human protein-coding variants
- (2012) Wenqing Fu et al. NATURE
- Assuring the quality of next-generation sequencing in clinical laboratory practice
- (2012) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- Detecting and annotating genetic variations using the HugeSeq pipeline
- (2012) Hugo Y K Lam et al. NATURE BIOTECHNOLOGY
- SIMPLEX: Cloud-Enabled Pipeline for the Comprehensive Analysis of Exome Sequencing Data
- (2012) Maria Fischer et al. PLoS One
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Rare-Variant Association Testing for Sequencing Data with the Sequence Kernel Association Test
- (2011) Michael C. Wu et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genomics really gets personal: How exome and whole genome sequencing challenge the ethical framework of human genetics research
- (2011) Holly K. Tabor et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART A
- SVA: software for annotating and visualizing sequenced human genomes
- (2011) Dongliang Ge et al. BIOINFORMATICS
- Integrated annotation and analysis of genetic variants from next-generation sequencing studies with variant tools
- (2011) F. A. San Lucas et al. BIOINFORMATICS
- The variant call format and VCFtools
- (2011) P. Danecek et al. BIOINFORMATICS
- Exome Sequencing of Ion Channel Genes Reveals Complex Profiles Confounding Personal Risk Assessment in Epilepsy
- (2011) Tara Klassen et al. CELL
- The advent of personal genome sequencing
- (2011) Radoje Drmanac GENETICS IN MEDICINE
- A probabilistic disease-gene finder for personal genomes
- (2011) M. Yandell et al. GENOME RESEARCH
- dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
- (2011) Xiaoming Liu et al. HUMAN MUTATION
- Frequent mutations of chromatin remodeling genes in transitional cell carcinoma of the bladder
- (2011) Yaoting Gui et al. NATURE GENETICS
- A rare variant in MYH6 is associated with high risk of sick sinus syndrome
- (2011) Hilma Holm et al. NATURE GENETICS
- Deep resequencing of GWAS loci identifies independent rare variants associated with inflammatory bowel disease
- (2011) Manuel A Rivas et al. NATURE GENETICS
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
- (2011) Gregory M. Cooper et al. NATURE REVIEWS GENETICS
- Exome sequencing as a tool for Mendelian disease gene discovery
- (2011) Michael J. Bamshad et al. NATURE REVIEWS GENETICS
- InterPro in 2011: new developments in the family and domain prediction database
- (2011) S. Hunter et al. NUCLEIC ACIDS RESEARCH
- A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
- (2011) PLOS BIOLOGY
- Testing for an Unusual Distribution of Rare Variants
- (2011) Benjamin M. Neale et al. PLoS Genetics
- Proteins Encoded in Genomic Regions Associated with Immune-Mediated Disease Physically Interact and Suggest Underlying Biology
- (2011) Elizabeth J. Rossin et al. PLoS Genetics
- Extending Rare-Variant Testing Strategies: Analysis of Noncoding Sequence and Imputed Genotypes
- (2010) Matthew Zawistowski et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Pooled Association Tests for Rare Variants in Exon-Resequencing Studies
- (2010) Alkes L. Price et al. AMERICAN JOURNAL OF HUMAN GENETICS
- DisGeNET: a Cytoscape plugin to visualize, integrate, search and analyze gene–disease networks
- (2010) Anna Bauer-Mehren et al. BIOINFORMATICS
- Genetic Heterogeneity in Human Disease
- (2010) Jon McClellan et al. CELL
- The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data
- (2010) A. McKenna et al. GENOME RESEARCH
- A Data-Adaptive Sum Test for Disease Association with Multiple Common or Rare Variants
- (2010) Fang Han et al. HUMAN HEREDITY
- Unexpected allelic heterogeneity and spectrum of mutations in Fowler syndrome revealed by next-generation exome sequencing
- (2010) Emilie Lalonde et al. HUMAN MUTATION
- Clinical assessment incorporating a personal genome
- (2010) Euan A Ashley et al. LANCET
- De novo mutations of SETBP1 cause Schinzel-Giedion syndrome
- (2010) Alexander Hoischen et al. NATURE GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng et al. NATURE GENETICS
- Variance component model to account for sample structure in genome-wide association studies
- (2010) Hyun Min Kang et al. NATURE GENETICS
- High-throughput, pooled sequencing identifies mutations in NUBPL and FOXRED1 in human complex I deficiency
- (2010) Sarah E Calvo et al. NATURE GENETICS
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- MutationTaster evaluates disease-causing potential of sequence alterations
- (2010) Jana Marie Schwarz et al. NATURE METHODS
- Advances in understanding cancer genomes through second-generation sequencing
- (2010) Matthew Meyerson et al. NATURE REVIEWS GENETICS
- Uncovering the roles of rare variants in common disease through whole-genome sequencing
- (2010) Elizabeth T. Cirulli et al. NATURE REVIEWS GENETICS
- Whole-Genome Sequencing in a Patient with Charcot–Marie–Tooth Neuropathy
- (2010) James R. Lupski et al. NEW ENGLAND JOURNAL OF MEDICINE
- miRBase: integrating microRNA annotation and deep-sequencing data
- (2010) A. Kozomara et al. NUCLEIC ACIDS RESEARCH
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- The Sequence Read Archive
- (2010) R. Leinonen et al. NUCLEIC ACIDS RESEARCH
- Frequent Mutation of BAP1 in Metastasizing Uveal Melanomas
- (2010) J. W. Harbour et al. SCIENCE
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- Identifying a High Fraction of the Human Genome to be under Selective Constraint Using GERP++
- (2010) Eugene V. Davydov et al. PLoS Computational Biology
- The Characterization of Twenty Sequenced Human Genomes
- (2010) Kimberly Pelak et al. PLoS Genetics
- A standard variation file format for human genome sequences
- (2010) Martin G Reese et al. GENOME BIOLOGY
- Galaxy: a comprehensive approach for supporting accessible, reproducible, and transparent computational research in the life sciences
- (2010) Jeremy Goecks et al. GENOME BIOLOGY
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- An evaluation of statistical approaches to rare variant analysis in genetic association studies
- (2009) Andrew P. Morris et al. GENETIC EPIDEMIOLOGY
- The consensus coding sequence (CCDS) project: Identifying a common protein-coding gene set for the human and mouse genomes
- (2009) K. D. Pruitt et al. GENOME RESEARCH
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Genetic diagnosis by whole exome capture and massively parallel DNA sequencing
- (2009) Murim Choi et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A Groupwise Association Test for Rare Mutations Using a Weighted Sum Statistic
- (2009) Bo Eskerod Madsen et al. PLoS Genetics
- Searching for SNPs with cloud computing
- (2009) Ben Langmead et al. GENOME BIOLOGY
- Frequent somatic mutations of GNAQ in uveal melanoma and blue naevi
- (2008) Catherine D. Van Raamsdonk et al. NATURE
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