Results 41 to 50 of about 12,735 (119)

Potential Candidate Gene and Underlying Molecular Mechanism Involving in Tumorigenesis of Endometriosis-Associated Ovarian Cancer (EAOC) in Asian Populations

Medical Sciences Forum, 2023
Molecular aberrations in endometriosis were known to be associated with an increased risk of epithelial ovarian cancer (EOCs), especially endometrioid ovarian cancer (EnOC) and ovarian clear cell carcinoma (OCCC).
Rut Christine Inggriani, Che-Chang Chang, Wei-Chung Yang   +2 more
doaj   +1 more source

Clinical significance of the whole-exome studies in myeloid neoplasms using next-generation sequencing

Клиническая онкогематология, 2013
The application of next generation sequencing (NGS) to study myeloid neoplasms pathogenesis is considered in this review. Analysis of tumor cell’s exome in patients with different forms of hematopoietic myeloid tumors revealed new recurrent mutations ...
S. A. Smirnikhina, A. V. Lavrov, E. P. Adilgereeva, A. G. Turkina, S. I. Kutsev   +4 more
doaj   +1 more source

Action and the Actionability in Exome Variation [PDF]

Circulation: Cardiovascular Genetics, 2012
As next-generation sequencing emerges as a clinical tool, one of the greatest challenges facing human geneticists and clinicians is the interpretation of the vast numbers of novel variants that are uncovered in each exome or genome. The traditional evaluation of genetic variation in Mendelian disease has hinged on several widely accepted criteria for ...
openaire   +2 more sources

Wessim: a whole-exome sequencing simulator based on in silico exome capture [PDF]

Bioinformatics, 2013
Abstract Summary: We propose a targeted re-sequencing simulator Wessim that generates synthetic exome sequencing reads from a given sample genome. Wessim emulates conventional exome capture technologies, including Agilent’s SureSelect and NimbleGen’s SeqCap, to generate DNA fragments from genomic target regions. The target regions can be
Sangwoo Kim, Kyowon Jeong 0001, Vineet Bafna   +2 more
openaire   +3 more sources

Spectrum of Genetic Variants in a Cohort of 37 Laterality Defect Cases

Frontiers in Genetics, 2022
Laterality defects are defined by the perturbed left–right arrangement of organs in the body, occurring in a syndromal or isolated fashion. In humans, primary ciliary dyskinesia (PCD) is a frequent underlying condition of defective left–right patterning,
Dinu Antony, Dinu Antony, Elif Gulec Yilmaz, Alper Gezdirici, Lennart Slagter, Zeineb Bakey, Zeineb Bakey, Helen Bornaun, Ibrahim Cansaran Tanidir, Tran Van Dinh, Han G. Brunner, Han G. Brunner, Peter Walentek, Peter Walentek, Sebastian J. Arnold, Sebastian J. Arnold, Rolf Backofen, Rolf Backofen, Miriam Schmidts, Miriam Schmidts, Miriam Schmidts   +20 more
doaj   +1 more source

Exome-chip meta-analysis identifies association between variation in ANKRD26 and platelet aggregation

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, Lisa R. Yanek, Joshua D. Backman, John D. Eicher, Jennifer E. Huffman, Yoav Ben-Shlomo, Andrew D. Beswick, Laura M. Yerges-Armstrong, Alan R. Shuldiner, Jeffrey R. O’Connell, Rasika A. Mathias, Diane M. Becker, Lewis C. Becker, Joshua P. Lewis, Andrew D. Johnson, Nauder Faraday   +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

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, A. V. Snezhkina, D. V. Kalinin, A. V. Pokrovsky, A. L. Golovyuk, O. A. Stepanov, E. A. Pudova, G. S. Razmakhaev, M. V. Orlova, A. P. Polyakov, M. V. Kiseleva, A. D. Kaprin, A. V. Kudryavtseva   +12 more
doaj   +1 more source

The association of rs1008832 CACNA1C, rs4027402 SYNE2, rs2340917 TMEM43, rs58225473 CACNB2 with sudden cardiac death

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, E. S. Melnikova, А. А. Gurazheva, A. M. Nesterets, S. K. Malyutina, I. A. Rodina, O. V. Khamovich, V. P. Novoselov, V. N. Maksimov   +8 more
doaj   +1 more source

Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an ‘exome-first’ approach [PDF]

Journal of Human Genetics, 2015
Whole-exome sequencing (WES) is becoming a standard tool for detecting nucleotide changes, and determining whether WES data can be used for the detection of copy-number variations (CNVs) is of interest. To date, several algorithms have been developed for such analyses, although verification is needed to establish if they fit well for the appropriate ...
Satoko, Miyatake, Eriko, Koshimizu, Atsushi, Fujita, Ryoko, Fukai, Eri, Imagawa, Chihiro, Ohba, Ichiro, Kuki, Megumi, Nukui, Atsushi, Araki, Yoshio, Makita, Tsutomu, Ogata, Mitsuko, Nakashima, Yoshinori, Tsurusaki, Noriko, Miyake, Hirotomo, Saitsu, Naomichi, Matsumoto   +15 more
openaire   +2 more sources