- Home
- Publications
- Publication Search
- Publication Details
Title
A primer on precision medicine informatics
Authors
Keywords
-
Journal
BRIEFINGS IN BIOINFORMATICS
Volume 17, Issue 1, Pages 145-153
Publisher
Oxford University Press (OUP)
Online
2015-06-06
DOI
10.1093/bib/bbv032
References
Ask authors/readers for more resources
Related references
Note: Only part of the references are listed.- College of American Pathologists' Laboratory Standards for Next-Generation Sequencing Clinical Tests
- (2015) Nazneen Aziz et al. ARCHIVES OF PATHOLOGY & LABORATORY MEDICINE
- Clinical Actionability Enhanced through Deep Targeted Sequencing of Solid Tumors
- (2015) K. Chen et al. CLINICAL CHEMISTRY
- Actionable exomic incidental findings in 6503 participants: challenges of variant classification
- (2015) Laura M. Amendola et al. GENOME RESEARCH
- Insight into biases and sequencing errors for amplicon sequencing with the Illumina MiSeq platform
- (2015) Melanie Schirmer et al. NUCLEIC ACIDS RESEARCH
- Whole-Exome Sequencing of Metastatic Cancer and Biomarkers of Treatment Response
- (2015) Himisha Beltran et al. JAMA Oncology
- Implementing individualized medicine into the medical practice
- (2014) Konstantinos N. Lazaridis et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Refining the structure and content of clinical genomic reports
- (2014) Michael O. Dorschner et al. AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS
- Performance Comparison of Illumina and Ion Torrent Next-Generation Sequencing Platforms for 16S rRNA-Based Bacterial Community Profiling
- (2014) Stephen J. Salipante et al. APPLIED AND ENVIRONMENTAL MICROBIOLOGY
- Trimmomatic: a flexible trimmer for Illumina sequence data
- (2014) Anthony M. Bolger et al. BIOINFORMATICS
- Clinical Relevance of KRAS-Mutated Subclones Detected with Picodroplet Digital PCR in Advanced Colorectal Cancer Treated with Anti-EGFR Therapy
- (2014) P. Laurent-Puig et al. CLINICAL CANCER RESEARCH
- Genomic cloud computing: legal and ethical points to consider
- (2014) Edward S Dove et al. EUROPEAN JOURNAL OF HUMAN GENETICS
- Reporting Incidental Findings in Clinical Whole Exome Sequencing: Incorporation of the 2013 ACMG Recommendations into Current Practices of Genetic Counseling
- (2014) Lacey A. Smith et al. Journal of Genetic Counseling
- Clinical Integration of Next Generation Sequencing: Coverage and Reimbursement Challenges
- (2014) Patricia A. Deverka et al. JOURNAL OF LAW MEDICINE & ETHICS
- Comprehensive molecular profiling of lung adenocarcinoma
- (2014) Eric A. Collisson et al. NATURE
- Integrating human sequence data sets provides a resource of benchmark SNP and indel genotype calls
- (2014) Justin M Zook et al. NATURE BIOTECHNOLOGY
- Whole-exome sequencing and clinical interpretation of formalin-fixed, paraffin-embedded tumor samples to guide precision cancer medicine
- (2014) Eliezer M Van Allen et al. NATURE MEDICINE
- Accurate de novo and transmitted indel detection in exome-capture data using microassembly
- (2014) Giuseppe Narzisi et al. NATURE METHODS
- COSMIC: exploring the world's knowledge of somatic mutations in human cancer
- (2014) Simon A. Forbes et al. NUCLEIC ACIDS RESEARCH
- Performance comparison of SNP detection tools with illumina exome sequencing data—an assessment using both family pedigree information and sample-matched SNP array data
- (2014) Ming Yi et al. NUCLEIC ACIDS RESEARCH
- Choice of transcripts and software has a large effect on variant annotation
- (2014) Davis J McCarthy et al. Genome Medicine
- Unraveling the clonal hierarchy of somatic genomic aberrations
- (2014) Davide Prandi et al. GENOME BIOLOGY
- Bioinformatics for precision medicine in oncology: principles and application to the SHIVA clinical trial
- (2014) Nicolas Servant et al. Frontiers in Genetics
- A comparative analysis of algorithms for somatic SNV detection in cancer
- (2013) Nicola D. Roberts et al. BIOINFORMATICS
- Dramatic Response Induced by Vemurafenib in aBRAFV600E-Mutated Lung Adenocarcinoma
- (2013) Solange Peters et al. JOURNAL OF CLINICAL ONCOLOGY
- Reporting results from whole-genome and whole-exome sequencing in clinical practice: a proposal for Canada?
- (2013) Ma'n H Zawati et al. JOURNAL OF MEDICAL GENETICS
- Towards Precision Medicine: Advances in Computational Approaches for the Analysis of Human Variants
- (2013) Thomas A. Peterson et al. JOURNAL OF MOLECULAR BIOLOGY
- Development and validation of a clinical cancer genomic profiling test based on massively parallel DNA sequencing
- (2013) Garrett M Frampton et al. NATURE BIOTECHNOLOGY
- Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples
- (2013) Kristian Cibulskis et al. NATURE BIOTECHNOLOGY
- The power of a crowd
- (2013) Daniel Evanko NATURE METHODS
- ClinVar: public archive of relationships among sequence variation and human phenotype
- (2013) Melissa J. Landrum et al. NUCLEIC ACIDS RESEARCH
- Variant Callers for Next-Generation Sequencing Data: A Comparison Study
- (2013) Xiangtao Liu et al. PLoS One
- Detecting somatic point mutations in cancer genome sequencing data: a comparison of mutation callers
- (2013) Qingguo Wang et al. Genome Medicine
- Shining a Light on Dark Sequencing: Characterising Errors in Ion Torrent PGM Data
- (2013) Lauren M. Bragg et al. PLoS Computational Biology
- EXCAVATOR: detecting copy number variants from whole-exome sequencing data
- (2013) Alberto Magi et al. GENOME BIOLOGY
- Discovery and Statistical Genotyping of Copy-Number Variation from Whole-Exome Sequencing Depth
- (2012) Menachem Fromer et al. AMERICAN JOURNAL OF HUMAN GENETICS
- Strelka: accurate somatic small-variant calling from sequenced tumor–normal sample pairs
- (2012) Christopher T. Saunders et al. BIOINFORMATICS
- Personalized cloud-based bioinformatics services for research and education: use cases and the elasticHPC package
- (2012) Mohamed El-Kalioby et al. BMC BIOINFORMATICS
- A Panel of Four miRNAs Accurately Differentiates Malignant from Benign Indeterminate Thyroid Lesions on Fine Needle Aspiration
- (2012) X. M. Keutgen et al. CLINICAL CANCER RESEARCH
- A program for annotating and predicting the effects of single nucleotide polymorphisms, SnpEff
- (2012) Pablo Cingolani et al. FLY
- Validation of ITD mutations in FLT3 as a therapeutic target in human acute myeloid leukaemia
- (2012) Catherine C. Smith et al. NATURE
- Assuring the quality of next-generation sequencing in clinical laboratory practice
- (2012) Amy S Gargis et al. NATURE BIOTECHNOLOGY
- Absolute quantification of somatic DNA alterations in human cancer
- (2012) Scott L Carter et al. NATURE BIOTECHNOLOGY
- Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV
- (2011) Jarupon Fah Sathirapongsasuti et al. BIOINFORMATICS
- ChimeraScan: a tool for identifying chimeric transcription in sequencing data
- (2011) Matthew K. Iyer et al. BIOINFORMATICS
- Molecular signatures database (MSigDB) 3.0
- (2011) A. Liberzon et al. BIOINFORMATICS
- The genomic complexity of primary human prostate cancer
- (2011) Michael F. Berger et al. NATURE
- A framework for variation discovery and genotyping using next-generation DNA sequencing data
- (2011) Mark A DePristo et al. NATURE GENETICS
- Sequence-specific error profile of Illumina sequencers
- (2011) Kensuke Nakamura et al. NUCLEIC ACIDS RESEARCH
- Personalized Oncology Through Integrative High-Throughput Sequencing: A Pilot Study
- (2011) S. Roychowdhury et al. Science Translational Medicine
- deFuse: An Algorithm for Gene Fusion Discovery in Tumor RNA-Seq Data
- (2011) Andrew McPherson et al. PLoS Computational Biology
- Wearable Sensors and Systems
- (2010) Paolo Bonato IEEE ENGINEERING IN MEDICINE AND BIOLOGY MAGAZINE
- A method and server for predicting damaging missense mutations
- (2010) Ivan A Adzhubei et al. NATURE METHODS
- Anaplastic Lymphoma Kinase Inhibition in Non–Small-Cell Lung Cancer
- (2010) Eunice L. Kwak et al. NEW ENGLAND JOURNAL OF MEDICINE
- ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data
- (2010) K. Wang et al. NUCLEIC ACIDS RESEARCH
- MapSplice: Accurate mapping of RNA-seq reads for splice junction discovery
- (2010) Kai Wang et al. NUCLEIC ACIDS RESEARCH
- FusionSeq: a modular framework for finding gene fusions by analyzing Paired-End RNA-Sequencing data
- (2010) Andrea Sboner et al. GENOME BIOLOGY
- VarScan: variant detection in massively parallel sequencing of individual and pooled samples
- (2009) Daniel C. Koboldt et al. BIOINFORMATICS
- Pindel: a pattern growth approach to detect break points of large deletions and medium sized insertions from paired-end short reads
- (2009) K. Ye et al. BIOINFORMATICS
- Fast and accurate short read alignment with Burrows-Wheeler transform
- (2009) H. Li et al. BIOINFORMATICS
- SOAP: short oligonucleotide alignment program
- (2008) R. Li et al. BIOINFORMATICS
Discover Peeref hubs
Discuss science. Find collaborators. Network.
Join a conversationCreate your own webinar
Interested in hosting your own webinar? Check the schedule and propose your idea to the Peeref Content Team.
Create Now