Clinical genomics

by Kulkarni, Shashikant Pfeifer, John D.

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Title Statements

Full title :Clinical genomics / edited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD.

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:1 online resource (xvii, 470 pages) : : color illustrations

Edition Identifiers

ISBN:9780124051737, 0124051731
oclc:ocn895660707
LC Classification:QH447
Dewey Decimal:572.8/6

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…

Subjects

Clinical Medicine Genetics, Medical Génétique médicale Genomics Génomique Internet resources Médecine clinique Medical genetics SCIENCE -- Life Sciences