224 related articles for article (PubMed ID: 30890783)
1. Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Chiang T; Liu X; Wu TJ; Hu J; Sedlazeck FJ; White S; Schaid D; Andrade M; Jarvik GP; Crosslin D; Stanaway I; Carrell DS; Connolly JJ; Hakonarson H; Groopman EE; Gharavi AG; Fedotov A; Bi W; Leduc MS; Murdock DR; Jiang Y; Meng L; Eng CM; Wen S; Yang Y; Muzny DM; Boerwinkle E; Salerno W; Venner E; Gibbs RA
Genet Med; 2019 Sep; 21(9):2135-2144. PubMed ID: 30890783
[TBL] [Abstract][Full Text] [Related]
2. VisCap: inference and visualization of germ-line copy-number variants from targeted clinical sequencing data.
Pugh TJ; Amr SS; Bowser MJ; Gowrisankar S; Hynes E; Mahanta LM; Rehm HL; Funke B; Lebo MS
Genet Med; 2016 Jul; 18(7):712-9. PubMed ID: 26681316
[TBL] [Abstract][Full Text] [Related]
3. Consistent count region-copy number variation (CCR-CNV): an expandable and robust tool for clinical diagnosis of copy number variation at the exon level using next-generation sequencing data.
Kim MJ; Lee S; Yun H; Cho SI; Kim B; Lee JS; Chae JH; Sun C; Park SS; Seong MW
Genet Med; 2022 Mar; 24(3):663-672. PubMed ID: 34906491
[TBL] [Abstract][Full Text] [Related]
4. Comparison of exon-level copy number variants in CytoScan XON assay and next-generation sequencing in clinical samples.
Won D; Yeom E; Shin S; Lee ST; Rak Choi J
Clin Chim Acta; 2024 Jun; 560():119703. PubMed ID: 38763467
[TBL] [Abstract][Full Text] [Related]
5. Evaluation of copy number variant detection from panel-based next-generation sequencing data.
Yao R; Yu T; Qing Y; Wang J; Shen Y
Mol Genet Genomic Med; 2019 Jan; 7(1):e00513. PubMed ID: 30565893
[TBL] [Abstract][Full Text] [Related]
6. Accurate clinical detection of exon copy number variants in a targeted NGS panel using DECoN.
Fowler A; Mahamdallie S; Ruark E; Seal S; Ramsay E; Clarke M; Uddin I; Wylie H; Strydom A; Lunter G; Rahman N
Wellcome Open Res; 2016 Nov; 1():20. PubMed ID: 28459104
[No Abstract] [Full Text] [Related]
7. Accuracy of CNV Detection from GWAS Data.
Zhang D; Qian Y; Akula N; Alliey-Rodriguez N; Tang J; ; Gershon ES; Liu C
PLoS One; 2011 Jan; 6(1):e14511. PubMed ID: 21249187
[TBL] [Abstract][Full Text] [Related]
8. Detecting copy number variation in next generation sequencing data from diagnostic gene panels.
Singh AK; Olsen MF; Lavik LAS; Vold T; Drabløs F; Sjursen W
BMC Med Genomics; 2021 Aug; 14(1):214. PubMed ID: 34465341
[TBL] [Abstract][Full Text] [Related]
9. Identification of copy number variants from exome sequence data.
Samarakoon PS; Sorte HS; Kristiansen BE; Skodje T; Sheng Y; Tjønnfjord GE; Stadheim B; Stray-Pedersen A; Rødningen OK; Lyle R
BMC Genomics; 2014 Aug; 15(1):661. PubMed ID: 25102989
[TBL] [Abstract][Full Text] [Related]
10. An Easy-to-Use Approach to Detect CNV From Targeted NGS Data: Identification of a Novel Pathogenic Variant in MO Disease.
Corsini S; Pedrini E; Patavino C; Gnoli M; Lanza M; Sangiorgi L
Front Endocrinol (Lausanne); 2022; 13():874126. PubMed ID: 35837302
[TBL] [Abstract][Full Text] [Related]
11. Copy Number Variations (CNVs) Account for 10.8% of Pathogenic Variants in Patients Referred for Hereditary Cancer Testing.
Agiannitopoulos K; Pepe G; Tsaousis GN; Potska K; Bouzarelou D; Katseli A; Ntogka C; Meintani A; Tsoulos N; Giassas S; Venizelos V; Markopoulos C; Iosifidou R; Karageorgopoulou S; Christodoulou C; Natsiopoulos I; Papazisis K; Vasilaki-Antonatou M; Kabletsas E; Psyrri A; Ziogas D; Lalla E; Koumarianou A; Anastasakou K; Papadimitriou C; Ozmen V; Tansan S; Kaban K; Ozatli T; Eniu DT; Chiorean A; Blidaru A; Rinsma M; Papadopoulou E; Nasioulas G
Cancer Genomics Proteomics; 2023; 20(5):448-455. PubMed ID: 37643779
[TBL] [Abstract][Full Text] [Related]
12. DeviCNV: detection and visualization of exon-level copy number variants in targeted next-generation sequencing data.
Kang Y; Nam SH; Park KS; Kim Y; Kim JW; Lee E; Ko JM; Lee KA; Park I
BMC Bioinformatics; 2018 Oct; 19(1):381. PubMed ID: 30326846
[TBL] [Abstract][Full Text] [Related]
13. An evaluation of copy number variation detection tools for cancer using whole exome sequencing data.
Zare F; Dow M; Monteleone N; Hosny A; Nabavi S
BMC Bioinformatics; 2017 May; 18(1):286. PubMed ID: 28569140
[TBL] [Abstract][Full Text] [Related]
14. Copy Number Variation detection from 1000 Genomes Project exon capture sequencing data.
Wu J; Grzeda KR; Stewart C; Grubert F; Urban AE; Snyder MP; Marth GT
BMC Bioinformatics; 2012 Nov; 13():305. PubMed ID: 23157288
[TBL] [Abstract][Full Text] [Related]
15. Comprehensive performance comparison of high-resolution array platforms for genome-wide Copy Number Variation (CNV) analysis in humans.
Haraksingh RR; Abyzov A; Urban AE
BMC Genomics; 2017 Apr; 18(1):321. PubMed ID: 28438122
[TBL] [Abstract][Full Text] [Related]
16. Evaluation of copy number variation detection for a SNP array platform.
Zhang X; Du R; Li S; Zhang F; Jin L; Wang H
BMC Bioinformatics; 2014 Feb; 15():50. PubMed ID: 24555668
[TBL] [Abstract][Full Text] [Related]
17. SavvyCNV: Genome-wide CNV calling from off-target reads.
Laver TW; De Franco E; Johnson MB; Patel KA; Ellard S; Weedon MN; Flanagan SE; Wakeling MN
PLoS Comput Biol; 2022 Mar; 18(3):e1009940. PubMed ID: 35294448
[TBL] [Abstract][Full Text] [Related]
18. Improving Copy Number Variant Detection from Sequencing Data with a Combination of Programs and a Predictive Model.
Välipakka S; Savarese M; Sagath L; Arumilli M; Giugliano T; Udd B; Hackman P
J Mol Diagn; 2020 Jan; 22(1):40-49. PubMed ID: 31733349
[TBL] [Abstract][Full Text] [Related]
19. The ICR96 exon CNV validation series: a resource for orthogonal assessment of exon CNV calling in NGS data.
Mahamdallie S; Ruark E; Yost S; Ramsay E; Uddin I; Wylie H; Elliott A; Strydom A; Renwick A; Seal S; Rahman N
Wellcome Open Res; 2017; 2():35. PubMed ID: 28630945
[TBL] [Abstract][Full Text] [Related]
20. CNV analysis in a diagnostic setting using target panel.
Sorrentino E; Daja M; Cristofoli F; Paolacci S; Bertelli M; Marceddu G
Eur Rev Med Pharmacol Sci; 2021 Dec; 25(1 Suppl):7-13. PubMed ID: 34890029
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]