Results 61 to 70 of about 227,823 (308)
SNES: single nucleus exome sequencing [PDF]
Genome Biology, 2015 AbstractSingle-cell genome sequencing methods are challenged by poor physical coverage and high error rates, making it difficult to distinguish real biological variants from technical artifacts. To address this problem, we developed a method called SNES that combines flow-sorting of single G1/0 or G2/M nuclei, time-limited multiple-displacement ...
Leung, Marco L +3 more
openaire +2 more sources
Somatic mutational landscape in von Hippel–Lindau familial hemangioblastoma
Molecular Oncology, EarlyView.The causes of central nervous system (CNS) hemangioblastoma in Von Hippel–Lindau (vHL) disease are unclear. We used Whole Exome Sequencing (WES) on familial hemangioblastoma to investigate events that underlie tumor development. Our findings suggest that VHL loss creates a permissive environment for tumor formation, while additional alterations ...
Maja Dembic +5 more
wiley +1 more source
Platelets, 2019 Previous genome-wide association studies (GWAS) have identified several variants associated with platelet function phenotypes; however, the proportion of variance explained by the identified variants is mostly small.
Ming-Huei Chen +15 more
doaj +1 more source
Polymorphism of the trehalase gene (TREH) in native populations of Siberia
Вавиловский журнал генетики и селекции, 2018 Deficiency of some carbohydrates in the traditional diet of native populations of the Far North contributed to a high population prevalence of inactive variants of genes encoding, for example, amylase (AMY2A gene) and sucraseisomaltase (SI gene ...
B. A. Malyarchuk, M. V. Derenko
doaj +1 more source
A case report and genetic characterization of a massive acinic cell carcinoma of the parotid with delayed distant metastases. [PDF]
, 2013 We describe the presentation, management, and clinical outcome of a massive acinic cell carcinoma of the parotid gland. The primary tumor and blood underwent exome sequencing which revealed deletions in CDKN2A as well as PPP1R13B, which induces p53.
Agrawal, Sumit K +17 more
core +3 more sources
Exome sequencing in Parkinson's disease [PDF]
Clinical Genetics, 2011 Bras JM, Singleton AB. Exome sequencing in Parkinson's disease.Exome sequencing is rapidly becoming a fundamental tool for genetics and functional genomics laboratories. This methodology has enabled the discovery of novel pathogenic mutations causing mendelian diseases that had, until now, remained elusive.
Jose M, Bras, A B, Singleton
openaire +2 more sources
Aging Is a Key Driver for Adult Acute Myeloid Leukemia
Aging and Cancer, EarlyView.Acute myeloid leukemia (AML) is a classical age‐related hematologic malignancy, and a key driver of AML is aging, which profoundly regulates intrinsic factors such as genomic instability, epigenetic reprogramming, and metabolic dysregulation, and alters bone marrow microenvironment.
Rong Yin, Haojian Zhang
wiley +1 more source
Analysis of mutations in CDC27, CTBP2, HYDIN and KMT5A genes in carotid paragangliomas
Вавиловский журнал генетики и селекции, 2018 Carotid paragangliomas (CPGLs) are rare neuroendocrine tumors that arise from paraganglionic tissue of the carotid body localizing at the bifurcation of carotid artery.
E. N. Lukyanova +12 more
doaj +1 more source
Атеросклероз, 2022 Single nucleotide polymorphisms rs1008832 of the CACNA1C gene, rs4027402 of the SYNE2 gene, rs2340917 of the TMEM43 gene, rs58225473 of the CACNB2 gene were found by sequencing the clinical exome of a group of men who died of sudden cardiac death (SCD ...
А. А. Ivanova +8 more
doaj +1 more source
Challenges in identifying cancer genes by analysis of exome sequencing data. [PDF]
, 2016 Massively parallel sequencing has permitted an unprecedented examination of the cancer exome, leading to predictions that all genes important to cancer will soon be identified by genetic analysis of tumours.
Bandyopadhyay, Sourav +6 more
core +1 more source