Matches in SemOpenAlex for { <https://semopenalex.org/work/W2402610014> ?p ?o ?g. }
Showing items 1 to 86 of
86
with 100 items per page.
- W2402610014 abstract "Proceedings: AACR 106th Annual Meeting 2015; April 18-22, 2015; Philadelphia, PAColorectal cancer (CRC) is one of the most common cancers, with over million cases and over 600,000 deaths each year in the world. It is estimated that a significant part of CRCs may have a hereditary compo-nent, but majority of this heritability remains unexplained. Structural variants (SVs) comprise an important type of variation that, until the availability of deep-coverage whole-genome sequencing (WGS), has been hard to study in genome-wide scale. It has been suggested that a significant portion of unexplained, or “missing”, heritability could be explained by structural variants. Somatic structural aberrations are known to play a role in tumorigenesis and tumor progression. However, structural variation discovery is often complicated by low sequencing coverage, sequencing artifacts, repeat regions and errors of the reference genome.To study the role of structural variation in CRC, we analyzed deep-coverage WGS data of matched tumor-normal sample pairs of 213 Finnish CRC patients and additional in-house WGS data. In these data, we identified both germline and somatic structural variants using a recent structural variant caller DELLY.A novel algorithm was used to combine DELLY paired-end structural variant calls across normal and tumor samples to improve both sensitivity and specificity of variant detection. A total of 4,854,576 unfiltered structural events were identified, consisting of 2,912,552 deletions, 1,304,636 tandem duplications, 71,724 inversions and 565,664 interchromosomal translocations. To call high-confidence somatic events, we identified 475,902 structural events in tumors that were not present in any normal sample. Calling accuracy was further improved by annotating events by mappability and proximity to repeat regions. Our results demonstrate the applicability of integrating structural variant data across a large number of samples to obtain high-quality structural variant calls.Citation Format: Esa Pitkanen, Tatiana Cajuso, Riku Katainen, Sofie Lundgren, Sari Tuupanen, Outi Kilpivaara, Lauri A. Aaltonen. Joint structural variant analysis of colorectal cancer whole genome sequencing data. [abstract]. In: Proceedings of the 106th Annual Meeting of the American Association for Cancer Research; 2015 Apr 18-22; Philadelphia, PA. Philadelphia (PA): AACR; Cancer Res 2015;75(15 Suppl):Abstract nr 2176. doi:10.1158/1538-7445.AM2015-2176" @default.
- W2402610014 created "2016-06-24" @default.
- W2402610014 creator A5004439161 @default.
- W2402610014 creator A5018822795 @default.
- W2402610014 creator A5043116623 @default.
- W2402610014 creator A5049996829 @default.
- W2402610014 creator A5062137975 @default.
- W2402610014 creator A5064183750 @default.
- W2402610014 creator A5091315460 @default.
- W2402610014 date "2015-08-01" @default.
- W2402610014 modified "2023-09-26" @default.
- W2402610014 title "Abstract 2176: Joint structural variant analysis of colorectal cancer whole genome sequencing data" @default.
- W2402610014 doi "https://doi.org/10.1158/1538-7445.am2015-2176" @default.
- W2402610014 hasPublicationYear "2015" @default.
- W2402610014 type Work @default.
- W2402610014 sameAs 2402610014 @default.
- W2402610014 citedByCount "0" @default.
- W2402610014 crossrefType "proceedings-article" @default.
- W2402610014 hasAuthorship W2402610014A5004439161 @default.
- W2402610014 hasAuthorship W2402610014A5018822795 @default.
- W2402610014 hasAuthorship W2402610014A5043116623 @default.
- W2402610014 hasAuthorship W2402610014A5049996829 @default.
- W2402610014 hasAuthorship W2402610014A5062137975 @default.
- W2402610014 hasAuthorship W2402610014A5064183750 @default.
- W2402610014 hasAuthorship W2402610014A5091315460 @default.
- W2402610014 hasConcept C104317684 @default.
- W2402610014 hasConcept C109825262 @default.
- W2402610014 hasConcept C121608353 @default.
- W2402610014 hasConcept C132917006 @default.
- W2402610014 hasConcept C13514818 @default.
- W2402610014 hasConcept C135763542 @default.
- W2402610014 hasConcept C141231307 @default.
- W2402610014 hasConcept C144621757 @default.
- W2402610014 hasConcept C151020129 @default.
- W2402610014 hasConcept C161890455 @default.
- W2402610014 hasConcept C24432333 @default.
- W2402610014 hasConcept C2993967602 @default.
- W2402610014 hasConcept C501734568 @default.
- W2402610014 hasConcept C526805850 @default.
- W2402610014 hasConcept C54355233 @default.
- W2402610014 hasConcept C70721500 @default.
- W2402610014 hasConcept C86803240 @default.
- W2402610014 hasConceptScore W2402610014C104317684 @default.
- W2402610014 hasConceptScore W2402610014C109825262 @default.
- W2402610014 hasConceptScore W2402610014C121608353 @default.
- W2402610014 hasConceptScore W2402610014C132917006 @default.
- W2402610014 hasConceptScore W2402610014C13514818 @default.
- W2402610014 hasConceptScore W2402610014C135763542 @default.
- W2402610014 hasConceptScore W2402610014C141231307 @default.
- W2402610014 hasConceptScore W2402610014C144621757 @default.
- W2402610014 hasConceptScore W2402610014C151020129 @default.
- W2402610014 hasConceptScore W2402610014C161890455 @default.
- W2402610014 hasConceptScore W2402610014C24432333 @default.
- W2402610014 hasConceptScore W2402610014C2993967602 @default.
- W2402610014 hasConceptScore W2402610014C501734568 @default.
- W2402610014 hasConceptScore W2402610014C526805850 @default.
- W2402610014 hasConceptScore W2402610014C54355233 @default.
- W2402610014 hasConceptScore W2402610014C70721500 @default.
- W2402610014 hasConceptScore W2402610014C86803240 @default.
- W2402610014 hasLocation W24026100141 @default.
- W2402610014 hasOpenAccess W2402610014 @default.
- W2402610014 hasPrimaryLocation W24026100141 @default.
- W2402610014 hasRelatedWork W1531816655 @default.
- W2402610014 hasRelatedWork W2031496088 @default.
- W2402610014 hasRelatedWork W2032333416 @default.
- W2402610014 hasRelatedWork W2078619065 @default.
- W2402610014 hasRelatedWork W2091856392 @default.
- W2402610014 hasRelatedWork W2094302511 @default.
- W2402610014 hasRelatedWork W2155943701 @default.
- W2402610014 hasRelatedWork W2313679391 @default.
- W2402610014 hasRelatedWork W2324932945 @default.
- W2402610014 hasRelatedWork W2330127644 @default.
- W2402610014 hasRelatedWork W2486824639 @default.
- W2402610014 hasRelatedWork W2560934270 @default.
- W2402610014 hasRelatedWork W2565966243 @default.
- W2402610014 hasRelatedWork W2566038184 @default.
- W2402610014 hasRelatedWork W2739780118 @default.
- W2402610014 hasRelatedWork W2809760705 @default.
- W2402610014 hasRelatedWork W2885526263 @default.
- W2402610014 hasRelatedWork W2887154138 @default.
- W2402610014 hasRelatedWork W2955233055 @default.
- W2402610014 hasRelatedWork W2986705505 @default.
- W2402610014 isParatext "false" @default.
- W2402610014 isRetracted "false" @default.
- W2402610014 magId "2402610014" @default.
- W2402610014 workType "article" @default.