Comprehensive use of extended exome analysis improves diagnostic yield in rare disease: a retrospective survey in 1,059 cases
Sign Up to like & getrecommendations! Published in 2018 at "Genetics in Medicine"
DOI: 10.1038/gim.2017.142
Abstract: PurposeWe sought to determine the analytical sensitivity of several extended exome variation analysis approaches in terms of their contribution to diagnostic yield and their clinical feasibility.MethodsWe retrospectively analyzed the results of genetic testing in 1,059… read more here.
Keywords: exome analysis; analysis approaches; analysis; diagnostic yield ... See more keywords
Exome analysis of treatment‐related AML after APL suggests secondary evolution
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DOI: 10.1111/bjh.15681
Abstract: Marc S. Raab Leah Fink Paul Schoen Sebastian Gonzalez-McQuire Alain Flinois Michele Cavo Maria-Victoria Mateos Kwee Yong Department of Internal Medicine V, University of Heidelberg, Heidelberg, Germany, Kantar Health, Montrouge, France, Amgen (Europe) GmbH, Rotkreuz,… read more here.
Keywords: exome analysis; medicine; analysis treatment; haematology ... See more keywords
Whole-exome analysis in osteosarcoma to identify a personalized therapy
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DOI: 10.18632/oncotarget.19010
Abstract: Osteosarcoma is the most common pediatric primary non-hematopoietic bone tumor. Survival of these young patients is related to the response to chemotherapy and development of metastases. Despite many advances in cancer research, chemotherapy regimens for… read more here.
Keywords: exome analysis; osteosarcoma; identify personalized; whole exome ... See more keywords