Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
出版年份 2012 全文链接
标题
Identifying disease mutations in genomic medicine settings: current challenges and how to accelerate progress
作者
关键词
-
出版物
Genome Medicine
Volume 4, Issue 7, Pages 58
出版商
Springer Nature
发表日期
2012-07-26
DOI
10.1186/gm359
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注意:仅列出部分参考文献,下载原文获取全部文献信息。- Revertant Somatic Mosaicism by Mitotic Recombination in Dyskeratosis Congenita
- (2012) Marjolijn C.J. Jongmans et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome Sequencing Identifies Autosomal-Dominant SRP72 Mutations Associated with Familial Aplasia and Myelodysplasia
- (2012) Michael Kirwan et al. AMERICAN JOURNAL OF HUMAN GENETICS
- De Novo Pathogenic SCN8A Mutation Identified by Whole-Genome Sequencing of a Family Quartet Affected by Infantile Epileptic Encephalopathy and SUDEP
- (2012) Krishna R. Veeramah et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Cantú Syndrome Is Caused by Mutations in ABCC9
- (2012) Bregje W.M. van Bon et al. AMERICAN JOURNAL OF HUMAN GENETICS
- VarSifter: Visualizing and analyzing exome-scale sequence variation data on a desktop computer
- (2012) Jamie K. Teer et al. BIOINFORMATICS
- Exploring single-sample SNP and INDEL calling with whole-genome de novo assembly
- (2012) H. Li BIOINFORMATICS
- Evaluating Pathogenicity of Rare Variants From Dilated Cardiomyopathy in the Exome Era
- (2012) Nadine Norton et al. Circulation-Cardiovascular Genetics
- In search of triallelism in Bardet–Biedl syndrome
- (2012) Leen Abu-Safieh et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Disease gene identification strategies for exome sequencing
- (2012) Christian Gilissen et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Somatic mosaicism in two unrelated patients with X-linked chronic granulomatous disease characterized by the presence of a small population of normal cells
- (2012) Masafumi Yamada et al. GENE
- A Combined Functional Annotation Score for Non-Synonymous Variants
- (2012) Margarida C. Lopes et al. HUMAN HEREDITY
- The Human Variome Project Beijing meeting
- (2012) Timothy D Smith et al. JOURNAL OF MEDICAL GENETICS
- Clinical application of exome sequencing in undiagnosed genetic conditions
- (2012) Anna C Need et al. JOURNAL OF MEDICAL GENETICS
- Bring clinical standards to human-genetics research
- (2012) Gholson J. Lyon NATURE
- Accurate whole-genome sequencing and haplotyping from 10 to 20 human cells
- (2012) Brock A. Peters et al. NATURE
- Mutations in kelch-like 3 and cullin 3 cause hypertension and electrolyte abnormalities
- (2012) Lynn M. Boyden et al. NATURE
- Developing predictive molecular maps of human disease through community-based modeling
- (2012) Jonathan M J Derry et al. NATURE GENETICS
- Detectable clonal mosaicism and its relationship to aging and cancer
- (2012) Kevin B Jacobs et al. NATURE GENETICS
- Detectable clonal mosaicism from birth to old age and its relationship to cancer
- (2012) Cathy C Laurie et al. NATURE GENETICS
- From patients to partners: participant-centric initiatives in biomedical research
- (2012) Jane Kaye et al. NATURE REVIEWS GENETICS
- De Novo Gene Disruptions in Children on the Autistic Spectrum
- (2012) Ivan Iossifov et al. NEURON
- Escaping the EHR Trap — The Future of Health IT
- (2012) Kenneth D. Mandl et al. NEW ENGLAND JOURNAL OF MEDICINE
- A comprehensive framework for prioritizing variants in exome sequencing studies of Mendelian diseases
- (2012) Miao-Xin Li et al. NUCLEIC ACIDS RESEARCH
- Nanopores: A journey towards DNA sequencing
- (2012) Meni Wanunu Physics of Life Reviews
- Mutation in a primate-conserved retrotransposon reveals a noncoding RNA as a mediator of infantile encephalopathy
- (2012) F. Cartault et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- Evolution and Functional Impact of Rare Coding Variation from Deep Sequencing of Human Exomes
- (2012) J. A. Tennessen et al. SCIENCE
- A Systematic Survey of Loss-of-Function Variants in Human Protein-Coding Genes
- (2012) D. G. MacArthur et al. SCIENCE
- Solving the Puzzle: Case Examples of Array Comparative Genomic Hybridization as a Tool to End the Diagnostic Odyssey
- (2012) Amelia R. Mroch et al. Current Problems in Pediatric and Adolescent Health Care
- Improving bioinformatic pipelines for exome variant calling
- (2012) Hanlee P Ji Genome Medicine
- Modifier Genes and the Plasticity of Genetic Networks in Mice
- (2012) Bruce A. Hamilton et al. PLoS Genetics
- Predicting the effects of frameshifting indels
- (2012) Jing Hu et al. GENOME BIOLOGY
- Finding Disease Variants in Mendelian Disorders By Using Sequence Data: Methods and Applications
- (2011) Iuliana Ionita-Laza et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Using VAAST to Identify an X-Linked Disorder Resulting in Lethality in Male Infants Due to N-Terminal Acetyltransferase Deficiency
- (2011) Alan F. Rope et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Genome-wide Studies of Copy Number Variation and Exome Sequencing Identify Rare Variants in BAG3 as a Cause of Dilated Cardiomyopathy
- (2011) Nadine Norton et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Exome sequencing: Dual role as a discovery and diagnostic tool
- (2011) Chee-Seng Ku et al. ANNALS OF NEUROLOGY
- Copy-Number Variations, Noncoding Sequences, and Human Phenotypes
- (2011) Eva Klopocki et al. Annual Review of Genomics and Human Genetics
- TREAT: a bioinformatics tool for variant annotations and visualizations in targeted and exome sequencing data
- (2011) Yan W. Asmann et al. BIOINFORMATICS
- Identification and correction of systematic error in high-throughput sequence data
- (2011) Frazer Meacham et al. BMC BIOINFORMATICS
- Clan Genomics and the Complex Architecture of Human Disease
- (2011) James R. Lupski 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
- EX-HOM (EXome HOMozygosity): A Proof of Principle
- (2011) Tommaso Pippucci et al. HUMAN HEREDITY
- Prediction of missense mutation functionality depends on both the algorithm and sequence alignment employed
- (2011) Stephanie Hicks et al. HUMAN MUTATION
- Performance of mutation pathogenicity prediction methods on missense variants
- (2011) Janita Thusberg et al. HUMAN MUTATION
- dbNSFP: A lightweight database of human nonsynonymous SNPs and their functional predictions
- (2011) Xiaoming Liu et al. HUMAN MUTATION
- Exome and genome analysis as a tool for disease identification and treatment: The 2011 human genome variation society scientific meeting
- (2011) William S. Oetting HUMAN MUTATION
- Mapping clinical phenotype data elements to standardized metadata repositories and controlled terminologies: the eMERGE Network experience
- (2011) Jyotishman Pathak et al. JOURNAL OF THE AMERICAN MEDICAL INFORMATICS ASSOCIATION
- Exome sequencing: a transformative technology
- (2011) Andrew B Singleton LANCET NEUROLOGY
- Initial impact of the sequencing of the human genome
- (2011) Eric S. Lander NATURE
- Accelerated clinical discovery using self-reported patient data collected online and a patient-matching algorithm
- (2011) Paul Wicks et al. NATURE BIOTECHNOLOGY
- Needles in stacks of needles: finding disease-causal variants in a wealth of genomic data
- (2011) Gregory M. Cooper et al. NATURE REVIEWS GENETICS
- A Mosaic Activating Mutation inAKT1Associated with the Proteus Syndrome
- (2011) Marjorie J. Lindhurst et al. NEW ENGLAND JOURNAL OF MEDICINE
- SpliceDisease database: linking RNA splicing and disease
- (2011) J. Wang et al. NUCLEIC ACIDS RESEARCH
- Ataxia telangiectasia mutated (ATM) modulates long interspersed element-1 (L1) retrotransposition in human neural stem cells
- (2011) N. G. Coufal et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- A User's Guide to the Encyclopedia of DNA Elements (ENCODE)
- (2011) PLOS BIOLOGY
- Next-generation human genetics
- (2011) Jay Shendure GENOME BIOLOGY
- Exome sequencing: the expert view
- (2011) Leslie G Biesecker et al. GENOME BIOLOGY
- Computational and statistical approaches to analyzing variants identified by exome sequencing
- (2011) Nathan O Stitziel et al. GENOME BIOLOGY
- Next generation sequencing in functional genomics
- (2010) T. Werner BRIEFINGS IN BIOINFORMATICS
- Genome variation discovery with high-throughput sequencing data
- (2010) A. V. Dalca et al. BRIEFINGS IN BIOINFORMATICS
- Whole-exome sequencing: a powerful technique for identifying novel genes of complex disorders
- (2010) SS Sanders CLINICAL GENETICS
- High-throughput sequencing and clinical microbiology: progress, opportunities and challenges
- (2010) Mark J Pallen et al. CURRENT OPINION IN MICROBIOLOGY
- Using SIFT and PolyPhen to Predict Loss-of-Function and Gain-of-Function Mutations
- (2010) Sarah E. Flanagan et al. Genetic Testing and Molecular Biomarkers
- Making a definitive diagnosis: Successful clinical application of whole exome sequencing in a child with intractable inflammatory bowel disease
- (2010) Elizabeth A Worthey et al. GENETICS IN MEDICINE
- Exome sequencing: the sweet spot before whole genomes
- (2010) J. K. Teer et al. HUMAN MOLECULAR GENETICS
- Complete Khoisan and Bantu genomes from southern Africa
- (2010) Stephan C. Schuster et al. NATURE
- A map of human genome variation from population-scale sequencing
- (2010) Richard M. Durbin et al. NATURE
- A genome-wide association study of Hodgkin's lymphoma identifies new susceptibility loci at 2p16.1 (REL), 8q24.21 and 10p14 (GATA3)
- (2010) Victor Enciso-Mora et al. NATURE GENETICS
- Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
- (2010) Sarah B Ng 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
- Uncovering the roles of rare variants in common disease through whole-genome sequencing
- (2010) Elizabeth T. Cirulli et al. NATURE REVIEWS GENETICS
- Molecular Diagnosis of Neonatal Diabetes Mellitus Using Next-Generation Sequencing of the Whole Exome
- (2010) Amélie Bonnefond et al. PLoS One
- Molecular prenatal diagnosis: the impact of modern technologies
- (2010) F. Lucy Raymond et al. PRENATAL DIAGNOSIS
- Mitotic Recombination in Patients with Ichthyosis Causes Reversion of Dominant Mutations in KRT10
- (2010) K. A. Choate et al. SCIENCE
- Analysis of Genetic Inheritance in a Family Quartet by Whole-Genome Sequencing
- (2010) J. C. Roach et al. SCIENCE
- Identification of deleterious mutations within three human genomes
- (2009) S. Chun et al. GENOME RESEARCH
- Targeted capture and massively parallel sequencing of 12 human exomes
- (2009) Sarah B. Ng et al. NATURE
- The power of social networking in medicine
- (2009) Catherine A Brownstein et al. NATURE BIOTECHNOLOGY
- How to map billions of short reads onto genomes
- (2009) Cole Trapnell et al. NATURE BIOTECHNOLOGY
- Exome sequencing identifies the cause of a mendelian disorder
- (2009) Sarah B Ng et al. NATURE GENETICS
- Multiple loci on 8q24 associated with prostate cancer susceptibility
- (2009) Ali Amin Al Olama et al. NATURE GENETICS
- Next-generation gap
- (2009) John D McPherson NATURE METHODS
- Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
- (2009) Prateek Kumar et al. Nature Protocols
- Sequencing technologies — the next generation
- (2009) Michael L. Metzker NATURE REVIEWS GENETICS
- Genomic Landscape of a Three-Generation Pedigree Segregating Affective Disorder
- (2009) Shuzhang Yang et al. PLoS One
- Exome Sequencing of a Multigenerational Human Pedigree
- (2009) Dale Hedges et al. PLoS One
- Systematic haplotype analysis resolves a complex plasma plant sterol locus on the Micronesian Island of Kosrae
- (2009) E. E. Kenny et al. PROCEEDINGS OF THE NATIONAL ACADEMY OF SCIENCES OF THE UNITED STATES OF AMERICA
- 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
- The Human Phenotype Ontology: A Tool for Annotating and Analyzing Human Hereditary Disease
- (2008) Peter N. Robinson et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Applications of next-generation sequencing technologies in functional genomics
- (2008) Olena Morozova et al. GENOMICS
- Somatic mosaicism for copy number variation in differentiated human tissues
- (2008) Arkadiusz Piotrowski et al. HUMAN MUTATION
- A wiki for the life sciences where authorship matters
- (2008) Robert Hoffmann NATURE GENETICS
- Sequence variant on 8q24 confers susceptibility to urinary bladder cancer
- (2008) Lambertus A Kiemeney et al. NATURE GENETICS
- A Gene Wiki for Community Annotation of Gene Function
- (2008) Jon W Huss et al. PLOS BIOLOGY
- Genetic Variation in an Individual Human Exome
- (2008) Pauline C. Ng et al. PLoS Genetics
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