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Your search keyword '"Santani A"' showing total 10 results
Start Over Author "Santani A" Journal the journal of molecular diagnostics
10 results on '"Santani A"'

4. Molecular Diagnostic Outcomes from 700 Cases

Author

Jill R. Murrell, Addie May I. Nesbitt, Samuel W. Baker, Kieran B. Pechter, Jorune Balciuniene, Xiaonan Zhao, Elizabeth H. Denenberg, Elizabeth T. DeChene, Chao Wu, Pushkala Jayaraman, Kajia Cao, Michael Gonzalez, Marcella Devoto, Alessandro Testori, John D. Monos, Matthew C. Dulik, Laura K. Conlin, Minjie Luo, Kristin McDonald Gibson, Qiaoning Guan, Mahdi Sarmady, Elizabeth Bhoj, Ingo Helbig, Elaine H. Zackai, Emma C. Bedoukian, Alisha Wilkens, Jennifer Tarpinian, Kosuke Izumi, Cara M. Skraban, Matthew A. Deardorff, Livija Medne, Ian D. Krantz, Bryan L. Krock, and Avni B. Santani

Subjects
Molecular Medicine, Pathology and Forensic Medicine
Published
2022
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5. A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute

Author

Marco L. Leung, Jianling Ji, Samuel Baker, Jillian G. Buchan, Theru A. Sivakumaran, Bryan L. Krock, Rebecca Hutchins, Pinar Bayrak-Toydemir, John Pfeifer, Maria Laura Cremona, Birgit Funke, and Avni B. Santani

Subjects
Exome Sequencing, Humans, Molecular Medicine, Exome, Clinical Laboratory Services, Laboratories, Laboratories, Clinical, Pathology and Forensic Medicine
Abstract

Exome reanalysis is useful for providing molecular diagnoses for previously uninformative samples. However, challenges exist in implementing a practical solution for clinicians and laboratories. This study complements the current literature by providing practical considerations for patient-level and cohort-level reanalyses. The Clinical and Laboratory Standards Institute assembled the Document Development Committee and an interpretation working group that developed the framework for reevaluation of exome-based data. We describe two distinct but complementary approaches toward exome reanalyses: clinician-initiated patient-level reanalysis, and laboratory-initiated cohort-level reanalysis. We highlight the advantages and constraints for both approaches, and provide a high-level conceptual guide for ordering clinicians and laboratories through the critical decision pathways. Because clinical exome sequencing continues to be the standard of care in genetics, exome reanalysis would be critical in increasing the overall diagnostic yield. A systematic guide will facilitate the efficient adoption of reevaluation of exome data for laboratories, health care professionals, genetic counselors, and clinicians.

Published
2022
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6. Molecular Diagnostic Outcomes from 700 Cases

Author

Murrell, Jill R., primary, Nesbitt, Addie May I., additional, Baker, Samuel W., additional, Pechter, Kieran B., additional, Balciuniene, Jorune, additional, Zhao, Xiaonan, additional, Denenberg, Elizabeth H., additional, DeChene, Elizabeth T., additional, Wu, Chao, additional, Jayaraman, Pushkala, additional, Cao, Kajia, additional, Gonzalez, Michael, additional, Devoto, Marcella, additional, Testori, Alessandro, additional, Monos, John D., additional, Dulik, Matthew C., additional, Conlin, Laura K., additional, Luo, Minjie, additional, McDonald Gibson, Kristin, additional, Guan, Qiaoning, additional, Sarmady, Mahdi, additional, Bhoj, Elizabeth, additional, Helbig, Ingo, additional, Zackai, Elaine H., additional, Bedoukian, Emma C., additional, Wilkens, Alisha, additional, Tarpinian, Jennifer, additional, Izumi, Kosuke, additional, Skraban, Cara M., additional, Deardorff, Matthew A., additional, Medne, Livija, additional, Krantz, Ian D., additional, Krock, Bryan L., additional, and Santani, Avni B., additional

Published
2022
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7. A Framework of Critical Considerations in Clinical Exome Reanalyses by Clinical and Laboratory Standards Institute

Author

Leung, Marco L., primary, Ji, Jianling, additional, Baker, Samuel, additional, Buchan, Jillian G., additional, Sivakumaran, Theru A., additional, Krock, Bryan L., additional, Hutchins, Rebecca, additional, Bayrak-Toydemir, Pinar, additional, Pfeifer, John, additional, Cremona, Maria Laura, additional, Funke, Birgit, additional, and Santani, Avni B., additional

Published
2022
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9. Designing and Implementing NGS Tests for Inherited Disorders

Author

Santani, Avni, primary, Simen, Birgitte B., additional, Briggs, Marian, additional, Lebo, Matthew, additional, Merker, Jason D., additional, Nikiforova, Marina, additional, Vasalos, Patricia, additional, Voelkerding, Karl, additional, Pfeifer, John, additional, and Funke, Birgit, additional

Published
2019
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10. Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Author

Baker, Samuel W., primary, Murrell, Jill R., additional, Nesbitt, Addie I., additional, Pechter, Kieran B., additional, Balciuniene, Jorune, additional, Zhao, Xiaonan, additional, Yu, Zhenming, additional, Denenberg, Elizabeth H., additional, DeChene, Elizabeth T., additional, Wilkens, Alisha B., additional, Bhoj, Elizabeth J., additional, Guan, Qiaoning, additional, Dulik, Matthew C., additional, Conlin, Laura K., additional, Abou Tayoun, Ahmad N., additional, Luo, Minjie, additional, Wu, Chao, additional, Cao, Kajia, additional, Sarmady, Mahdi, additional, Bedoukian, Emma C., additional, Tarpinian, Jennifer, additional, Medne, Livija, additional, Skraban, Cara M., additional, Deardorff, Matthew A., additional, Krantz, Ian D., additional, Krock, Bryan L., additional, and Santani, Avni B., additional

Published
2019
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