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Variants in GNPTAB, GNPTG and NAGPA genes are associated with stutterers.

Gene
Non-syndromic stuttering is a neurodevelopmental disorder characterized by disruptions in normal flow of speech in the form of repetition, prolongation and involuntary halts. Previously, mutations with more severe effects on GNPTAB and GNPTG have bee...

Identifying β-thalassemia carriers using a data mining approach: The case of the Gaza Strip, Palestine.

Artificial intelligence in medicine
Thalassemia is considered one of the most common genetic blood disorders that has received excessive attention in the medical research fields worldwide. Under this context, one of the greatest challenges for healthcare professionals is to correctly d...

Network abnormalities among non-manifesting Parkinson disease related LRRK2 mutation carriers.

Human brain mapping
Non-manifesting carriers (NMC) of the G2019S mutation in the LRRK2 gene represent an "at risk" group for future development of Parkinson's disease (PD) and have demonstrated task related fMRI changes. However, resting-state networks have received les...

Identification of Hürthle cell cancers: solving a clinical challenge with genomic sequencing and a trio of machine learning algorithms.

BMC systems biology
BACKGROUND: Identification of Hürthle cell cancers by non-operative fine-needle aspiration biopsy (FNAB) of thyroid nodules is challenging. Resultingly, non-cancerous Hürthle lesions were conventionally distinguished from Hürthle cell cancers by hist...

Virtual genetic diagnosis for familial hypercholesterolemia powered by machine learning.

European journal of preventive cardiology
AIMS: Familial hypercholesterolemia (FH) is the most common genetic disorder of lipid metabolism. The gold standard for FH diagnosis is genetic testing, available, however, only in selected university hospitals. Clinical scores - for example, the Dut...

Support Vector Machine-Based Formula for Detecting Suspected α Thalassemia Carriers: A Path toward Universal Screening.

International journal of molecular sciences
The blood counts of α thalassemia carriers (α-thal) are similar to those of β thalassemia carriers, except for Hemoglobin A (Hb A), which is not elevated. The objective of this study was to determine whether mathematical formulas are effective for de...