MDS and MDS/MPN stand as challenging entities in hemato-oncology due to their heterogeneity. Thus, genetic testing provides important means for diagnosis confirmation and offers further insight into the prognosis and management of these patients.Aurora Arghir...
which have the highest utility in a clinical setting. Testing for monogenic dementia can be instrumental in confirming a timely diagnosis and shortening the diagnostic odyssey, particularly when differential diagnoses are difficult to distinguish. Even in cases in which a clinical...
(66%, n ϭ 172),19 while 31% of US physicians had ordered or referred for genetic testing in the previous 12 months.20 Comparison of genetic education in Europe has been complicated by the variety of health care sys- tems, organizational structures in health professional educa- tion, and...
MDS disorders account for a significant subset of MDS in children and young adults. Because many patients lack overt syndromic features, genetic testing plays an important role in the diagnostic evaluation. This review provides an overview of syndromes associated with genetic predisposition to MDS, ...
(GWAS) provide a platform for detecting genetic interactions, but existing methods for identifying them from GWAS data tend to focus on testing individual locus pairs, which undermines statistical power. Importantly, a global genetic network mapped for a model eukaryotic organism revealed that genetic...
HER2 therapies have been approved for use in tumors that are positive secondary to gene amplification, not aberrant polyploidization; therefore, the investigators suggested performing additional testing of tumors found to have > 6 HER2 copies after taxane therapy.56 The 2013 ASCO/CAP guidelines for ...
Some of these DTC tests can seem to be a comprehensive test for cancer genes, when in reality they are not. Other DTC tests provide more comprehensive testing for cancer genes but are newer to the genetic testing space. These companies have less experience interpreting abnormal findings. ...
No genome-wide significant associations were identified after correction for multiple testing. A small fraction of previously reported associations between human genetic variants and specific taxa could be replicated in our cohort, while no replication was observed for any of the diversity metrics. ...
Testing heterozygote excess and deficiency. Genetics 140: 1413–1419. Reynolds J, Weir BS, Cockerham CC (1983). Estimation of the coancestry coefficient: basis for a short-term genetic distance. Genetics 105: 767–779. Heredity Genetic uniqueness of the Waorani people S Cardoso et al 615 ...
(MSigDB v5.2, collection C2, subcollection CP; see URLs). To correct enrichment statistics for testing of multiple pathways, we used an adaptive permutation procedure with default settings (up to a maximum of 10,000 permutations). Hence, in this analysis we set the significance threshold toα...