scholarly journals A systematic approach to assessing the clinical significance of genetic variants

2013 ◽  
Vol 84 (5) ◽  
pp. 453-463 ◽  
Author(s):  
H Duzkale ◽  
J Shen ◽  
H McLaughlin ◽  
A Alfares ◽  
MA Kelly ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Genetic Variants ◽  
Systematic Approach

scholarly journals Tumor characteristics as an analytic tool for classifying genetic variants of uncertain clinical significance

2008 ◽  
Vol 29 (11) ◽  
pp. 1292-1303 ◽  
Author(s):  
Robert M.W. Hofstra ◽  
Amanda B. Spurdle ◽  
Diana Eccles ◽  
William D. Foulkes ◽  
Niels de Wind ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Genetic Variants ◽  
Tumor Characteristics ◽  
Analytic Tool

scholarly journals Clinical and molecular relevance of genetic variants in the non-coding transcriptome of patients with cytogenetically normal acute myeloid leukemia

Haematologica ◽  
2021 ◽  
Author(s):  
Dimitrios Papaioannou ◽  
Hatice G. Ozer ◽  
Deedra Nicolet ◽  
Amog P. Urs ◽  
Tobias Herold ◽  
...  
Keyword(s):  
Acute Myeloid Leukemia ◽  
Clinical Outcome ◽  
Rna Sequencing ◽  
Clinical Significance ◽  
Genetic Variants ◽  
Myeloid Leukemia ◽  
Sequencing Data ◽  
Younger Adults ◽  
Non Coding Rnas ◽  
Acute Myeloid

Expression levels of long non-coding RNAs (lncRNAs) have been shown to associate with clinical outcome of patients with cytogenetically normal acute myeloid leukemia (CN-AML). However, the frequency and clinical significance of genetic variants in the nucleotide sequences of lncRNAs in AML patients is unknown. Herein, we analyzed total RNA sequencing data of 377 younger adults (aged

scholarly journals The defining DNA methylation signature of Kabuki syndrome enables functional assessment of genetic variants of unknown clinical significance

Epigenetics ◽  
2017 ◽  
Vol 12 (11) ◽  
pp. 923-933 ◽  
Author(s):  
Erfan Aref-Eshghi ◽  
Laila C. Schenkel ◽  
Hanxin Lin ◽  
Cindy Skinner ◽  
Peter Ainsworth ◽  
...  
Keyword(s):  
Dna Methylation ◽  
Clinical Significance ◽  
Functional Assessment ◽  
Genetic Variants ◽  
Kabuki Syndrome

scholarly journals Application of Embryonic Lethal or Other Obvious Phenotypes to Characterize the Clinical Significance of Genetic Variants Found in Trans with Known Deleterious Mutations

2005 ◽  
Vol 65 (21) ◽  
pp. 10096-10103 ◽  
Author(s):  
Thaddeus Judkins ◽  
Brant C. Hendrickson ◽  
Amie M. Deffenbaugh ◽  
Kristilyn Eliason ◽  
Benoît Leclair ◽  
...  
Keyword(s):  
Clinical Significance ◽  
Genetic Variants ◽  
Deleterious Mutations ◽  
Embryonic Lethal ◽  
In Trans

Evaluating the Clinical Significance of Drug Interactions: A Systematic Approach

1996 ◽  
Vol 4 (3) ◽  
pp. 153-158 ◽  
Author(s):  
Ann M. Callahan ◽  
Lauren B. Marangell ◽  
Terence A. Ketter
Keyword(s):  
Drug Interactions ◽  
Clinical Significance ◽  
Systematic Approach
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