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SCIDIR_ocn895660707 |
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OCoLC |
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20231120111906.0 |
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m o d |
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cr cnu|||unuuu |
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141117t20152015ne a ob 001 0 eng d |
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|a N$T
|b eng
|e rda
|e pn
|c N$T
|d N$T
|d UIU
|d YDXCP
|d OCLCF
|d WAU
|d OCLCQ
|d TEFOD
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|d OCLCQ
|d UAB
|d LQU
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|d S2H
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|d OCLCQ
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019 |
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|a 1066629806
|a 1105190773
|a 1105559498
|a 1235828150
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020 |
|
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|a 9780124051737
|q (electronic bk.)
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020 |
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|a 0124051731
|q (electronic bk.)
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020 |
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|z 9780124047488
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020 |
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|z 0124047483
|q (hbk.)
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035 |
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|a (OCoLC)895660707
|z (OCoLC)1066629806
|z (OCoLC)1105190773
|z (OCoLC)1105559498
|z (OCoLC)1235828150
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050 |
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4 |
|a QH447
|b .C55 2015eb
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060 |
|
4 |
|a 2015 A-138
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060 |
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4 |
|a QU 460
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072 |
|
7 |
|a SCI
|x 007000
|2 bisacsh
|
082 |
0 |
4 |
|a 572.8/6
|2 23
|
130 |
0 |
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|a Clinical genomics (Kulkarni)
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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 |
|
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|a 1 online resource (xvii, 470 pages) :
|b color illustrations
|
336 |
|
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|a text
|b txt
|2 rdacontent
|
337 |
|
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|a computer
|b c
|2 rdamedia
|
338 |
|
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|a online resource
|b cr
|2 rdacarrier
|
504 |
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|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 |
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|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.
|
650 |
1 |
2 |
|a Genomics
|0 (DNLM)D023281
|
650 |
|
2 |
|a Genetics, Medical
|0 (DNLM)D005826
|
650 |
2 |
2 |
|a Clinical Medicine
|0 (DNLM)D015510
|
650 |
|
6 |
|a G�enomique.
|0 (CaQQLa)201-0363181
|
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
|