topic:"Genomics - methods" found 8 records - Provincial Hospitals Library Catalogue

Cardiovascular Genetics and Genomics : Principles and Clinical Practice

https://libcat.nshealth.ca/en/permalink/provcat42927

edited by Dhavendra Kumar, Perry Elliott. --Cham: Springer , c2018.

Available Online: View e-Book

Location: Online

This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practiceáincludes a concise and clear account on …

Available Online: View e-Book

Other Authors: Kumar, Dhavendra; Elliott, Perry

Responsibility: edited by Dhavendra Kumar, Perry Elliott

Place of Publication: Cham

Publisher: Springer

Date of Publication: c2018

Physical Description: 1 online resource (xix, 920 p.) : 164 illus., 110 illus. in color

ISBN: 9783319661148; 9783319661124 (print ed.); 9783319661131 (print ed.); 9783319881799 (print ed.)

Subjects (MeSH): Cardiovascular Diseases - genetics; Genomics - methods

Specialty: Cardiology; Genetics, Medical

Abstract: This title reflects the exponential growth in the knowledge and information on this subject and defines the extensive clinical translation of cardiovascular genetics and genomics in clinical practice. This concise, clinically oriented text is targeted at a broad range of clinicians who manage patients and families with a wide range of heterogeneous inherited cardiovascular conditions. Cardiovascular Genetics and Genomics: Principles and Clinical Practiceáincludes a concise and clear account on selected topics written by a team of leading experts on clinical cardiovascular genetics. Each chapter include key information to assist the clinician and case histories have been incorporated to reflect contemporary practice in clinical cardiovascular genetics and genomics. Therefore this will be of key importance to all professionals working in the discipline, from clinicians and trainees in cardiology, cardiac surgery, electrophysiology, immunology through geneticists, nursing staff and those involved in precision medicine.

Contents: Introduction to Genes, Genome and Inheritance -- Elements of Clinical Cardiovascular Genetics: Spectrum and Classification -- Principles and Practice of Genetic Counselling for Inherited Cardiac Conditions -- Genetic and Genomic Technologies: Next Generation Sequencing for Inherited Cardiovascular Conditions -- Pharmacogenetics and pharmacogenomics in cardiovascular medicine and surgery -- Congenital Cardiovascular Disorders including Adult Congenital Heart Disease -- Inherited cardiovascular metabolic disorders -- Mitochondrial cardiovascular diseases -- Inherited Cardiac Muscle Disorders: Hypertrophic and Restrictive Cardiomyopathies -- Inherited Cardiac Muscle Disorders: Dilated Cardiomyopathy -- Inherited Cardiac Muscle Disorders: Arrhythmogenic Right Ventricular Cardiomyopathy -- Inherited Cardiac Muscle Disorders: Left Ventricular Noncompaction -- Inherited arrhythmias: LQTS/SQTS/CPVT -- Inherited arrhythmias: Brugada syndrome and early repolarisation syndrome -- Inherited Conduction Disease and Atrial Fibrillation -- Cardiovascular manifestations in Duchenne/Becker muscular dystrophy and other primary myopathies -- Inherited cardiac amyloidosis -- Cardiovascular manifestations of inherited myotonias -- Marfan syndrome and related inherited aortopathies -- Cardiovascular manifestations in inherited connective tissue disorders -- Thoracic aortic dilatation, aneurysm and dissection -- Genetics and genomics of coronary artery disease -- Cardiovascular manifestations of immune-mediated inflammatory Disorders -- Genetics and Genomics of Stroke -- Genetics and genomics of systemic hypertension -- Inherited pulmonary arterial hypertension -- Genetics and Genomics of Sudden Unexplained Cardiac Death -- Specific issues in clinical genetics and genetic counselling practices related to inherited cardiovascular conditions -- Multidisciplinary management for inherited cardiovascular conditions -- Internal devices and interventions for inherited cardiac conditions -- Inherited cardiovascular conditions: phenotype-genotype data mining and sharing; databases.

Format: e-Book

Location: Online

DNA microarrays and related genomics techniques : design, analysis and interpretation of experiments

https://libcat.nshealth.ca/en/permalink/provcat22533

Allison, David B. --Boca Raton, FL: Chapman and Hall/CRC , 2006.

Call Number: QU 450 D629 2006

Location: Dickson Building

Call Number: QU 450 D629 2006

Author: Allison, David B

Place of Publication: Boca Raton, FL

Publisher: Chapman and Hall/CRC

Date of Publication: 2006

Physical Description: 371 p.

Series Vol.: 14

Series Title: Biostatistics

ISBN: 0824754611

Subjects (MeSH): Oligonucleotide Array Sequence Analysis - methods; Genomics - methods; Genetic techniques

Format: Book

Location: Dickson Building

Loan Period: 3 weeks

Genomic Applications in Pathology

https://libcat.nshealth.ca/en/permalink/provcat38933

George Jabboure Netto, Iris Schrijver, editors. --New York, NY: Springer , c2015.

Available Online: View e-Book

Location: Online

Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist's role…

Available Online: View e-Book

Other Authors: Netto, George Jabboure; Schrijver, Iris

Responsibility: George Jabboure Netto, Iris Schrijver, editors

Place of Publication: New York, NY

Publisher: Springer

Date of Publication: c2015

Physical Description: 1 online resource (xv, 622 p. : 85 illus., 79 illus. in color)

ISBN: 9781493907274; 9781493907267 (print ed.)

Subjects (MeSH): Genomics - methods; Neoplasms - genetics; Pathology, Molecular - methods

Abstract: Genomic Applications in Pathology provides a state-of-the art review of the scientific principles underlying next generation genomic technologies and the required bioinformatics approaches to analyses of the daunting amount of data generated by current and emerging genomic technologies. Implementation roadmaps for various clinical assays such as single gene, gene panels, whole exome and whole genome assays are discussed together with issues related to reporting, including the pathologist's role in interpretation and clinical integration of genomic tests results. Genomic applications for site-specific solid tumors and hematologic neoplasms are detailed, as well as genomic applications in pharmacogenomics, inherited genetic diseases, and infectious diseases. The latest iteration of practice recommendations and guidelines in genomic testing, put forth by stakeholder professional organizations such as the Association for Molecular Pathology and the College of American Pathologists, are also discussed in the volume, as well as regulatory issues and laboratory accreditation related to genomic testing. Written by experts in the field, Genomic Applications in Pathology provides a comprehensive resource that is of great value to practicing molecular pathologists, hematopathologists, other subspecialized pathologists, general pathologists, pathology trainees, oncologists, and geneticists.

Contents: Part I. Genomic Technologies -- Current Massively Parallel Sequencing Technologies: Platforms and Reporting Considerations -- Emerging Next Generation Sequencing Technologies -- Transcriptome Sequencing (RNA-Seq) -- miRNA Expression Assays -- Circulating Tumor Cells: Enrichment and Genomic Applications -- Circulating Cell-free DNA for Molecular Diagnostics and Therapeutic Monitoring -- Part II. Practice Related Aspects of Clinical Genomics -- Genomic Pathology: Training for New Technology -- Implementation of Genomic Sequencing Assays -- Regulatory and Reimbursement Issues in Genomic Testing -- Patents and Proprietary Assays -- Ethical Issues in Clinical Genetics and Genomics -- Part III. Clinical Implementation of Diagnostic Genomics -- Transitioning Discoveries from Cancer Genomics Research Laboratories into Pathology Practice -- Bioinformatics Tools in Clinical Genomics -- Next Generation Sequencing for Single Gene Analysis -- Next Generation Sequencing for Gene Panels -- Implementation of Exome Sequencing Assays -- Implementation of Genome Sequencing Assays -- Clinical Information Systems in the Era of Personalized Medicine -- Reporting Clinical Genomic Assay Results and the Role of the Pathologist -- Part IV. Genomic Applications in Oncology -- Genomic Applications in Hematologic Oncology -- Genomic Applications in Brain Tumors -- Genomic Applications in Head and Neck Cancers -- Genomic Applications in Breast Carcinoma -- Genomic Applications in Pulmonary Malignancies -- Genomic Applications in Colorectal and Pancreatic Tumors -- Molecular Pathology of Genitourinary Cancers: Translating the Cancer Genome to the Clinic -- Genomic Applications in Gynecologic Malignancies -- Genomic Applications in Epithelial Ovarian Malignancies -- Genomic Applications in Soft Tissue Sarcomas -- Part V. Genomic Applications of Inherited and Infectious Diseases -- Genomic Applications in Inherited Genetic Disorders -- Genomic Applications in Pharmacogenomics -- Sequencing Cell Free DNA in the Maternal Circulation to Screen for Down Syndrome and Other Common Aneuploidies -- Genomic Applications in the Clinical Management of Infectious Diseases.

Format: e-Book

Location: Online

Genomic disorders : the genomic basis of disease

https://libcat.nshealth.ca/en/permalink/provcat22409

Lupski, James R. --Totowa, NJ: Humana Press , 2006.

Call Number: QZ 50 G335 2006

Location: Halifax Infirmary

Call Number: QZ 50 G335 2006

Author: Lupski, James R

Other Authors: Stankiewicz, Pawel

Place of Publication: Totowa, NJ

Publisher: Humana Press

Date of Publication: 2006

Physical Description: 426 p.

ISBN: 1588295591

Subjects (MeSH): Chromosome Aberrations; Genome Components; Genomics - methods

Format: Book

Location: Halifax Infirmary

Loan Period: 3 weeks

Genomic Disorders : The Genomic Basis of Disease

https://libcat.nshealth.ca/en/permalink/provcat29018

edited by James R. Lupski, Pawel Stankiewicz. --Totowa, NJ: Humana Press , c2006.

Available Online: View e-Book

Location: Online

Available Online: View e-Book

Author: Lupski, James R

Other Authors: Stankiewicz, Pawel

Responsibility: edited by James R. Lupski, Pawel Stankiewicz

Place of Publication: Totowa, NJ

Publisher: Humana Press

Date of Publication: c2006

ISBN: 9781597450393

Subjects (MeSH): Chromosome Aberrations; Genome; Genomics - methods

Subjects (LCSH): Genetics

Format: e-Book

Location: Online

The Pangenome

https://libcat.nshealth.ca/en/permalink/provcat45136

Hervé Tettelin, Duccio Medini, editors. --Cham: Springer , c2020.

Available Online: View e-Book

Access: Open access

Location: Online

Available Online: View e-Book

Other Authors: Tettelin, Hervé; Medini, Duccio

Responsibility: Hervé Tettelin, Duccio Medini, editors

Place of Publication: Cham

Publisher: Springer

Date of Publication: c2020

Physical Description: 1 online resource (xiv, 307 p.)

ISBN: 9783030382810; 9783030382803 (print ed.)

Subjects (MeSH): Genetic Variation; Genome, Bacterial; Genomics - methods

Specialty: Genetics

Contents: Part I. Genomic Diversity and the Pangenome Concept -- The Pangenome: A Data-Driven Discovery in Biology -- The Prokaryotic Species Concept and Challenges -- The Bacterial Guide to Designing a Diversified Gene Portfolio -- A Review of Pangenome Tools and Recent Studies -- Part II. Evolutionary Biology of Pangenomes -- Structure and Dynamics of Bacterial Populations: Pangenome Ecology -- Bacterial Microevolution and the Pangenome -- Pangenomes and Selection: The Public Goods Hypothesis -- A Pangenomic Perspective on the Emergence, Maintenance, and Predictability of Antibiotic Resistance -- Part III. Pangenomics: An Open, Evolving Discipline -- Meta-Pangenome: At the Crossroad of Pangenomics and Metagenomics -- Pangenome Flux Balance Analysis Toward Panphenomes -- Bacterial Epigenomics: Epigenetics in the Age of Population Genomics -- Eukaryotic Pangenomes -- Computational Strategies for Eukaryotic Pangenome Analyses.