Clinical genomics a guide to clinical next generation sequencing
Provides an overview of the various next-generation sequencing (NGS) technologies that are used in clinical diagnostic laboratories. This book focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting
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| Other Authors: | , |
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| Format: | Book |
| Language: | English |
| Published: |
Amsterdam
Elsevier/Academic Press
[2015]
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| 245 | 0 | 0 | |a Clinical genomics |b a guide to clinical next generation sequencing |c edited by Shashikant Kulkarni, John Pfeifer |
| 264 | 1 | |a Amsterdam |b Elsevier/Academic Press |c [2015] | |
| 264 | 4 | |c © 2015 | |
| 300 | |a xvii, 470 pages |b illustrations |c 28 cm | ||
| 336 | |a text |2 rdacontent | ||
| 337 | |a unmediated |2 rdamedia | ||
| 338 | |a volume |2 rdacarrier | ||
| 504 | |a Includes bibliographical references and index | ||
| 505 | 0 | |a Overview of technical aspects and chemistries of next-generation sequencing / Ian S. Hagemann -- Clinical genome sequencing / Tina M. Hambuch, John Mayfield, Shankar Ajay, Michelle Hogue, Carri-Lyn Mead and Erica Ramos -- Targeted hybrid capture methods / Elizabeth C. Chastain -- Amplification-based methods / Marina N. Nikiforova, William A. Laframboise and Yuri E. Nikiforov -- Emerging DNA sequencing technologies / Shashikant Kulkarni and John Pfeifer -- RNA-sequencing and methylome analysis / Shamika Ketkar and Shashikant Kulkarni -- Base calling, read mapping, and coverage analysis / Paul Cliften -- Single nucleotide variant detection using next generation sequencing / David H. Spencer, Bin Zhang and John Pfeifer -- Insertions and deletions (indels) / Jennifer K. Sehn -- Translocation detection using next-generation sequencing / Haley Abel, John Pfeifer and Eric Duncavage -- Copy number variant detection using next-generation sequencing / Alex Nord, Stephen J. Salipante and Colin Pritchard -- Reference databases for disease associations / Wendy S. Rubinstein, Deanna M. Church and Donna R. Maglott -- Reporting of clinical genomics test results / Kristina A. Roberts, Rong Mao, Brendan D. O'Fallon and Elaine Lyon -- Reporting software / Rakesh Nagarajan -- Constitutional diseases: amplification-based next-generation sequencing / Vanessa L. Horner and Madhuri R. Hegde -- Targeted hybrid capture for inherited disease panels / Sami S. Amr and Birgit Funke -- Constitutional disorders: whole exome and whole genome sequencing / Benjamin D. Solomon -- Somatic diseases (cancer): amplification-based next-generation sequencing / Fengqi Chang, Geoffrey L. Liu, Cindy J. Liu and Marilyn M. Li -- Targeted hybrid capture for somatic mutation detection in the clinic / Catherine E. Cottrell, Andrew J. Bredemeyer and Hussam Al-Kateb -- Somatic diseases (cancer): whole exome and whole genome sequencing / Jennifer K. Sehn -- Assay validation / Amy S. Gargis, Lisa Kalman and Ira M. Lubin -- Regulatory considerations related to clinical next generation sequencing / Shashikant Kulkarni and John Pfeifer -- Genomic reference materials for clinical applications / Justin Zook and Marc Salit -- Ethical challenges to next-generation sequencing / Stephanie Solomon -- Legal issues / Roger D. Klein -- Billing and reimbursement / Kris Rickhoff, Andrew Drury and John Pfeifer | |
| 520 | |a Provides an overview of the various next-generation sequencing (NGS) technologies that are used in clinical diagnostic laboratories. This book focuses on the challenges of diagnostic interpretation of NGS results in a clinical setting | ||
| 592 | |a 0009110/15 |b 11/8/2016 |c RM 644.43 |h Areesh | ||
| 650 | 0 | |a Medical genetics | |
| 650 | 0 | |a Genomics | |
| 650 | 1 | 2 | |a Genomics |
| 650 | 2 | 2 | |a Clinical Medicine |
| 700 | 1 | |a Kulkarni, Shashikant |e editor | |
| 700 | 1 | |a Pfeifer, John D. |e editor | |
| 999 | |a vtls000056158 |c 105484 |d 105484 | ||