Tag: sequencing

Cardiology

Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing.

Newsemia
Identification of novel candidate genes in heterotaxy syndrome patients with congenital heart diseases by whole exome sequencing. Biochim Biophys Acta Mol Basis Dis. 2020 Jul...
Gastroenterology

Next-generation sequencing reveals heterogeneous genetic alterations in key signaling pathways of mismatch repair deficient colorectal carcinomas

Newsemia
Next-generation sequencing reveals heterogeneous genetic alterations in key signaling pathways of mismatch repair deficient colorectal carcinomas Source link...
Gastroenterology

Undifferentiated carcinoma with osteoclast-like giant cells of the pancreas harboring KRAS and BRCA mutations: case report and whole exome sequencing analysis

Newsemia
Undifferentiated carcinoma with osteoclast-like giant cells (UC-OGC) is an extremely uncommon pancreatic neoplasm that comprises less than 1% of all exocrine pancreatic tumors. To date,...
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...
Gastroenterology

Tiny but mighty: use of next generation sequencing on discarded cytocentrifuged bile duct brushing specimens to increase sensitivity of cytological diagnosis

Newsemia
Tiny but mighty: use of next generation sequencing on discarded cytocentrifuged bile duct brushing specimens to increase sensitivity of cytological diagnosis Source link...
Biology

Portable sequencing as a teaching tool in conservation and biodiversity research

Newsemia
by Mrinalini Watsa, Gideon Andrew Erkenswick, Aaron Pomerantz, Stefan Prost As biodiversity loss continues to accelerate, there is a critical need for education and biomonitoring...
Cardiology

Adverse effects of nicotine on cardiogenic differentiation from human embryonic stem cells detected by single-cell RNA sequencing.

Newsemia
Related Articles Adverse effects of nicotine on cardiogenic differentiation from human embryonic stem cells detected by single-cell RNA sequencing. Biochem Biophys Res Commun. 2020 Apr...
Biology

Precise genomic mapping of 5-hydroxymethylcytosine via covalent tether-directed sequencing

Newsemia
by Povilas Gibas, Milda Narmontė, Zdislav Staševskij, Juozas Gordevičius, Saulius Klimašauskas, Edita Kriukienė 5-hydroxymethylcytosine (5hmC) is the most prevalent intermediate on the oxidative DNA demethylation...
Latest News

Parents' motivations, concerns and understanding of genome sequencing: a qualitative interview study

Newsemia
Lewis, C; Sanderson, S; Hill, M; Patch, C; Searle, B; Hunter, A; Chitty, LS; (2020) Parents’ motivations, concerns and understanding of genome sequencing: a qualitative...
Gastroenterology

Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation

Newsemia
Co-existence of ABCB11 and DCDC2 disease: Infantile cholestasis requires both next-generation sequencing and clinical-histopathologic correlation Source link...

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