FRINK Linked Data Fragments server

Matches in SemOpenAlex for { <https://semopenalex.org/work/W3087283453> ?p ?o ?g. }

• W3087283453 endingPage "137" @default.
• W3087283453 startingPage "137" @default.
• W3087283453 abstract "B-acute lymphoblastic leukemia (B-ALL) is a hematological neoplasm of the stem lymphoid cell of the B lineage, characterized by the presence of genetic alterations closely related to the course of the disease. The number of alterations identified in these patients grows as studies of the disease progress, but in clinical practice, the conventional techniques frequently used are only capable of detecting the most common alterations. However, techniques, such as next-generation sequencing (NGS), are being implemented to detect a wide spectrum of new alterations that also include point mutations.In this study, we designed and validated a comprehensive custom NGS panel to detect the main genetic alterations present in the disease in a single step. For this purpose, 75 B-ALL diagnosis samples from patients previously characterized by standard-of-care diagnostic techniques were sequenced.The use of the custom NGS panel allowed the correct detection of the main genetic alterations present in B-ALL patients, including the presence of an aneuploid clone in 14 of the samples and some of the recurrent fusion genes in 35 of the samples. The panel was also able to successfully detect a number of secondary alterations, such as single nucleotide variants (SNVs) and copy number variations (CNVs) in 66 and 46 of the samples analyzed, respectively, allowing for further refinement of the stratification of patients. The custom NGS panel could also detect alterations with a high level of sensitivity and reproducibility when the findings obtained by NGS were compared with those obtained from other conventional techniques.The use of this custom NGS panel allows us to quickly and efficiently detect the main genetic alterations present in B-ALL patients in a single assay (SNVs and insertions/deletions (INDELs), recurrent fusion genes, CNVs, aneuploidies, and single nucleotide polymorphisms (SNPs) associated with pharmacogenetics). The application of this panel would thus allow us to speed up and simplify the molecular diagnosis of patients, helping patient stratification and management." @default.
• W3087283453 created "2020-09-25" @default.
• W3087283453 creator A5005085196 @default.
• W3087283453 creator A5010222780 @default.
• W3087283453 creator A5013709600 @default.
• W3087283453 creator A5029750442 @default.
• W3087283453 creator A5033127381 @default.
• W3087283453 creator A5033254447 @default.
• W3087283453 creator A5034771058 @default.
• W3087283453 creator A5035896968 @default.
• W3087283453 creator A5039768299 @default.
• W3087283453 creator A5040512305 @default.
• W3087283453 creator A5041936963 @default.
• W3087283453 creator A5059408277 @default.
• W3087283453 creator A5060453493 @default.
• W3087283453 creator A5061310331 @default.
• W3087283453 creator A5063715435 @default.
• W3087283453 creator A5064854422 @default.
• W3087283453 creator A5071438607 @default.
• W3087283453 creator A5074746066 @default.
• W3087283453 creator A5075248550 @default.
• W3087283453 creator A5081442812 @default.
• W3087283453 creator A5081799338 @default.
• W3087283453 date "2020-09-21" @default.
• W3087283453 modified "2023-10-03" @default.
• W3087283453 title "Comprehensive Custom NGS Panel Validation for the Improvement of the Stratification of B-Acute Lymphoblastic Leukemia Patients" @default.
• W3087283453 cites W1569839307 @default.
• W3087283453 cites W1770669347 @default.
• W3087283453 cites W1990013137 @default.
• W3087283453 cites W1994298238 @default.
• W3087283453 cites W2012114257 @default.
• W3087283453 cites W2016833582 @default.
• W3087283453 cites W2033383345 @default.
• W3087283453 cites W2047965845 @default.
• W3087283453 cites W2062879364 @default.
• W3087283453 cites W2082917083 @default.
• W3087283453 cites W2090186172 @default.
• W3087283453 cites W2103538080 @default.
• W3087283453 cites W2114340167 @default.
• W3087283453 cites W2125277492 @default.
• W3087283453 cites W2137423947 @default.
• W3087283453 cites W2140148690 @default.
• W3087283453 cites W2148831483 @default.
• W3087283453 cites W2235737683 @default.
• W3087283453 cites W2263423515 @default.
• W3087283453 cites W2274867445 @default.
• W3087283453 cites W2286866866 @default.
• W3087283453 cites W2321589388 @default.
• W3087283453 cites W2516575316 @default.
• W3087283453 cites W2585888498 @default.
• W3087283453 cites W2590406062 @default.
• W3087283453 cites W2619758396 @default.
• W3087283453 cites W2735691558 @default.
• W3087283453 cites W2745065704 @default.
• W3087283453 cites W2762636073 @default.
• W3087283453 cites W2765955071 @default.
• W3087283453 cites W2794056739 @default.
• W3087283453 cites W2794341976 @default.
• W3087283453 cites W2892901304 @default.
• W3087283453 cites W2904938710 @default.
• W3087283453 cites W2908034334 @default.
• W3087283453 cites W2913254252 @default.
• W3087283453 cites W2916162780 @default.
• W3087283453 cites W2922500791 @default.
• W3087283453 cites W2949857618 @default.
• W3087283453 cites W2953264080 @default.
• W3087283453 cites W2963703116 @default.
• W3087283453 cites W2981608667 @default.
• W3087283453 cites W2996578960 @default.
• W3087283453 cites W3000731800 @default.
• W3087283453 cites W3009547772 @default.
• W3087283453 cites W3014584966 @default.
• W3087283453 cites W4242108431 @default.
• W3087283453 doi "https://doi.org/10.3390/jpm10030137" @default.
• W3087283453 hasPubMedCentralId "https://www.ncbi.nlm.nih.gov/pmc/articles/7565730" @default.
• W3087283453 hasPubMedId "https://pubmed.ncbi.nlm.nih.gov/32967112" @default.
• W3087283453 hasPublicationYear "2020" @default.
• W3087283453 type Work @default.
• W3087283453 sameAs 3087283453 @default.
• W3087283453 citedByCount "4" @default.
• W3087283453 countsByYear W30872834532021 @default.
• W3087283453 countsByYear W30872834532022 @default.
• W3087283453 countsByYear W30872834532023 @default.
• W3087283453 crossrefType "journal-article" @default.
• W3087283453 hasAuthorship W3087283453A5005085196 @default.
• W3087283453 hasAuthorship W3087283453A5010222780 @default.
• W3087283453 hasAuthorship W3087283453A5013709600 @default.
• W3087283453 hasAuthorship W3087283453A5029750442 @default.
• W3087283453 hasAuthorship W3087283453A5033127381 @default.
• W3087283453 hasAuthorship W3087283453A5033254447 @default.
• W3087283453 hasAuthorship W3087283453A5034771058 @default.
• W3087283453 hasAuthorship W3087283453A5035896968 @default.
• W3087283453 hasAuthorship W3087283453A5039768299 @default.
• W3087283453 hasAuthorship W3087283453A5040512305 @default.
• W3087283453 hasAuthorship W3087283453A5041936963 @default.
• W3087283453 hasAuthorship W3087283453A5059408277 @default.
• W3087283453 hasAuthorship W3087283453A5060453493 @default.
• W3087283453 hasAuthorship W3087283453A5061310331 @default.

• next