Rapid brain tumor classification from sparse epigenomic data
Although the intraoperative molecular diagnosis of the approximately 100 known brain tumor entities described to date has been a goal of neuropatho…
Tag: DNA sequencing
ImmuneLENS characterizes systemic immune dysregulation in aging and cancer
Recognition and elimination of pathogens and cancer cells depend on the adaptive immune system. Thus, accurate quantification of immune subsets is …
Cancer-independent somatic mutation of the wild-type NF1 allele in normal tissues in neurofibromatosis type 1
Cancer predisposition syndromes mediated by recessive cancer genes generate tumors via somatic variants (second hits) in the unaffected allele. Sec…
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
Atrial fibrillation (AF) is a prevalent and morbid abnormality of the heart rhythm with a strong genetic component. Here, we meta-analyzed genome a…
Selection for somatic escape variants in SERPINA1 in the liver of patients with alpha-1 antitrypsin deficiency
Somatic variants accumulate in non-malignant tissues with age. Functional variants, leading to clonal advantage of hepatocytes, accumulate in the l…
Pathogenic variants in SHROOM3 associated with hemifacial microsomia
Hemifacial microsomia (HFM) is a rare congenital disorder that affects facial symmetry, ear development, and other congenital anomalies. However, k…
Carbohydrates and carbohydrate degradation gene abundance and transcription in Atlantic waters of the Arctic
Carbohydrates are chemically and structurally diverse, represent a substantial fraction of marine organic matter and are key substrates for heterot…
Rare coinheritance of hemoglobin vancleave with severe beta-thalassemia mutation in a patient with secondary erythrocytosis
Hemoglobin (Hb) Vancleave (NM_000518.5:c.431 A > T; dbSNP: rs33918338) is an extremely rare structural hemoglobin variant worldwide, and s…