عنوان

Clinical genomics /

(Number (ISBN

0124047483 (hbk)

(Number (ISBN

9780124047488 (hbk)

Number

dltt

Title Proper

Clinical genomics /

General Material Designation

[Book]

First Statement of Responsibility

edited by Shashikant Kulkarni, John Pfeifer.

Specific Material Designation and Extent of Item

xvii, 470 pages :

Other Physical Details

illustrations

Text of Note

Includes bibliographical references and index.

Text of Note

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.

0

General Material Designation

Clinical genomics (Kulkarni)

Genomics.

Medical genetics.

Clinical Medicine.

Genomics.

Number

Edition

Class number

Book number

Class number

Class number

Kulkarni, Shashikant

Pfeifer, John D.

Date of Transaction

20150428032412.0

Cataloguing Rules (Descriptive Conventions))

rda

Electronic name

[Book]

Y