Title Statements
- Full title :Clinical genomics / edited by Shashikant Kulkarni, John Pfeifer.
Edition Statements
- Publication Date:2015
Publication Statements
- Publisher(s):Elsevier/Academic Press
- Place of Publication:Amsterdam
- Language:eng
- Publication Date:2015
The Physical Object
- Description:xvii, 470 pages : : illustrations
Edition Identifiers
- ISBN:9780124047488, 0124047483
- oclc:ocn896908175
- LC Classification:RB155
- Dewey Decimal:616.042
Table of Contents
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, Br…
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