Automated Clinical Exome Reanalysis Reveals Novel Diagnoses-Reference-Cited by-同舟云学术

Automated Clinical Exome Reanalysis Reveals Novel Diagnoses

Published:2019-01 Issue:1 Volume:21 Page:38-48
ISSN:1525-1578
Container-title:The Journal of Molecular Diagnostics
language:en
Short-container-title:The Journal of Molecular Diagnostics

Author:

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

Publisher

Elsevier BV

Subject

Molecular Medicine,Pathology and Forensic Medicine

Reference38 articles.

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3. Clinical application of whole-exome sequencing across clinical indications;Retterer;Genet Med,2016

4. Systematic reanalysis of clinical exome data yields additional diagnoses: implications for providers;Wenger;Genet Med,2017

5. International cooperation to enable the diagnosis of all rare genetic diseases;Boycott;Am J Hum Genet,2017

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