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Clinical genomics /

Detalles Bibliográficos
Clasificación:Libro Electrónico
Otros Autores: Kulkarni, Shashikant (Editor ), Pfeifer, John D. (Editor )
Formato: Electrónico eBook
Idioma:Inglés
Publicado: Amsterdam : Elsevier/Academic Press, [2015]
Temas:
Acceso en línea:Texto completo

MARC

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020 |a 0124051731  |q (electronic bk.) 
020 |z 9780124047488 
020 |z 0124047483  |q (hbk.) 
035 |a (OCoLC)895660707  |z (OCoLC)1066629806  |z (OCoLC)1105190773  |z (OCoLC)1105559498  |z (OCoLC)1235828150 
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130 0 |a Clinical genomics (Kulkarni) 
245 1 0 |a Clinical genomics /  |c edited by Shashikant Kulkarni M.S. (Medicine)., PhD. FACMG, John Pfeifer M.D., PhD. 
264 1 |a Amsterdam :  |b Elsevier/Academic Press,  |c [2015] 
264 4 |c �2015 
300 |a 1 online resource (xvii, 470 pages) :  |b color illustrations 
336 |a text  |b txt  |2 rdacontent 
337 |a computer  |b c  |2 rdamedia 
338 |a online resource  |b cr  |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. 
588 0 |a Online resource; title from PDF title page (EBSCO, viewed November 20, 2014). 
650 0 |a Genomics. 
650 0 |a Medical genetics. 
650 0 |a Clinical medicine. 
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650 6 |a G�en�etique m�edicale.  |0 (CaQQLa)201-0001432 
650 6 |a M�edecine clinique.  |0 (CaQQLa)201-0046422 
650 7 |a SCIENCE  |x Life Sciences  |x Biochemistry.  |2 bisacsh 
650 7 |a Clinical medicine  |2 fast  |0 (OCoLC)fst00864361 
650 7 |a Genomics  |2 fast  |0 (OCoLC)fst00940228 
650 7 |a Medical genetics  |2 fast  |0 (OCoLC)fst01014133 
655 4 |a Internet Resources. 
700 1 |a Kulkarni, Shashikant,  |e editor. 
700 1 |a Pfeifer, John D.,  |e editor. 
856 4 0 |u https://sciencedirect.uam.elogim.com/science/book/9780124047488  |z Texto completo