Tag: Variant

Latest News

Genetic variant in Japanese population increases risk of interstitial lung disease among RA patients

Newsemia
In many cases, a complex interplay between our genes and the environment governs whether or not we will develop a certain disease. Interestingly though, researchers...
AI/ML

Complete Abdomen and Pelvis Segmentation using U-Net Variant Architecture.

Newsemia
Complete Abdomen and Pelvis Segmentation using U-Net Variant Architecture. Med Phys. 2020 Aug 02;: Authors: Weston AD, Korfiatis P, Philbrick KA, Conte GM, Kostandy P,...
AI/ML

SomaticCombiner: improving the performance of somatic variant calling based on evaluation tests and a consensus approach.

Newsemia
Related Articles SomaticCombiner: improving the performance of somatic variant calling based on evaluation tests and a consensus approach. Sci Rep. 2020 Jul 30;10(1):12898 Authors: Wang...
Pediatrics

The recurrent SETBP1 c.2608G > A, p.(Gly870Ser) variant in a patient with Schinzel-Giedion syndrome: an illustrative case of the utility of whole exome sequencing in a critically ill neonate

Newsemia
Schinzel-Giedion syndrome (SGS) is a multiple malformation syndrome mainly characterized by severe intellectual disability, distinctive facial features, and multiple congenital anomalies, including skeletal ab… Source...
Neurology

Primary hypoparathyroidism and multiple neuraxial involvement in mitochondrial disorder due to the variant m.15043G>A in MT-CYB

Newsemia
Mitochondrial disorders (MIDs) are a phenotypically and genotypically heterogeneous group of diseases characterized by multisystem involvement with defective mitochondrial metabolism, structure, or maintenance [1]. Phenotypic...
Latest News

The repeat variant in MSH3 is not a genetic modifier for spinocerebellar ataxia type 3 and Friedreich's ataxia

Newsemia
Yau, WY; Raposo, M; Bettencourt, C; Labrum, R; Vasconcelos, J; Parkinson, MH; Giunti, P; … Houlden, H; + view all Yau, WY; Raposo, M; Bettencourt,...

This website uses cookies to improve your experience. We'll assume you're ok with this, but you can opt-out if you wish. Accept Read More

Privacy & Cookies Policy

COVID-19

COVID-19 (Coronavirus) is a new illness that is having a major effect on all businesses globally LIVE COVID-19 STATISTICS FOR World