167 related articles for article (PubMed ID: 29339441)
1. Allele-Specific Droplet Digital PCR Combined with a Next-Generation Sequencing-Based Algorithm for Diagnostic Copy Number Analysis in Genes with High Homology: Proof of Concept Using Stereocilin.
Amr SS; Murphy E; Duffy E; Niazi R; Balciuniene J; Luo M; Rehm HL; Abou Tayoun AN
Clin Chem; 2018 Apr; 64(4):705-714. PubMed ID: 29339441
[TBL] [Abstract][Full Text] [Related]
2. Comprehensive diagnostic testing for stereocilin: an approach for analyzing medically important genes with high homology.
Mandelker D; Amr SS; Pugh T; Gowrisankar S; Shakhbatyan R; Duffy E; Bowser M; Harrison B; Lafferty K; Mahanta L; Rehm HL; Funke BH
J Mol Diagn; 2014 Nov; 16(6):639-47. PubMed ID: 25157971
[TBL] [Abstract][Full Text] [Related]
3. Utility of droplet digital PCR and NGS-based CNV clinical assays in hearing loss diagnostics: current status and future prospects.
Rentas S; Abou Tayoun A
Expert Rev Mol Diagn; 2021 Feb; 21(2):213-221. PubMed ID: 33554673
[No Abstract] [Full Text] [Related]
4. CNV-RF Is a Random Forest-Based Copy Number Variation Detection Method Using Next-Generation Sequencing.
Onsongo G; Baughn LB; Bower M; Henzler C; Schomaker M; Silverstein KA; Thyagarajan B
J Mol Diagn; 2016 Nov; 18(6):872-881. PubMed ID: 27597741
[TBL] [Abstract][Full Text] [Related]
5. Detection and Confirmation of Deafness-Causing Copy Number Variations in the STRC Gene by Massively Parallel Sequencing and Comparative Genomic Hybridization.
Moteki H; Azaiez H; Sloan-Heggen CM; Booth K; Nishio SY; Wakui K; Yamaguchi T; Kolbe DL; Iwasa YI; Shearer AE; Fukushima Y; Smith RJ; Usami SI
Ann Otol Rhinol Laryngol; 2016 Nov; 125(11):918-923. PubMed ID: 27469136
[TBL] [Abstract][Full Text] [Related]
6. Quantitative Assessment of Parental Somatic Mosaicism for Copy-Number Variant (CNV) Deletions.
Liu Q; Grochowski CM; Bi W; Lupski JR; Stankiewicz P
Curr Protoc Hum Genet; 2020 Jun; 106(1):e99. PubMed ID: 32176465
[TBL] [Abstract][Full Text] [Related]
7. Rapid screening of copy number variations in
Ito T; Kawashima Y; Fujikawa T; Honda K; Makabe A; Kitamura K; Tsutsumi T
Hum Genome Var; 2019; 6():41. PubMed ID: 31645979
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of copy number variants for genetic hearing loss: a review of current approaches and recent findings.
Abbasi W; French CE; Rockowitz S; Kenna MA; Eliot Shearer A
Hum Genet; 2022 Apr; 141(3-4):387-400. PubMed ID: 34811589
[TBL] [Abstract][Full Text] [Related]
9. Absolute quantification reveals the stable transmission of a high copy number variant linked to autoinflammatory disease.
Olsson M; Kierczak M; Karlsson Å; Jabłońska J; Leegwater P; Koltookian M; Abadie J; De Citres CD; Thomas A; Hedhammar Å; Tintle L; Lindblad-Toh K; Meadows JR
BMC Genomics; 2016 Apr; 17():299. PubMed ID: 27107962
[TBL] [Abstract][Full Text] [Related]
10. Clinical Validation of Copy Number Variant Detection from Targeted Next-Generation Sequencing Panels.
Kerkhof J; Schenkel LC; Reilly J; McRobbie S; Aref-Eshghi E; Stuart A; Rupar CA; Adams P; Hegele RA; Lin H; Rodenhiser D; Knoll J; Ainsworth PJ; Sadikovic B
J Mol Diagn; 2017 Nov; 19(6):905-920. PubMed ID: 28818680
[TBL] [Abstract][Full Text] [Related]
11. The Next Generation of Population-Based DFNB16 Carrier Screening and Diagnosis: STRC Copy-Number Variant Analysis from Genome Sequencing Data.
Xiang J; Peng J; Sun X; Lin Z; Li D; Ye H; Wang S; Bai Y; Wang X; Du P; Gao Y; Sun J; Pan S; Peng Z
Clin Chem; 2023 Jul; 69(7):763-770. PubMed ID: 37207672
[TBL] [Abstract][Full Text] [Related]
12. Noise cancellation using total variation for copy number variation detection.
Zare F; Hosny A; Nabavi S
BMC Bioinformatics; 2018 Oct; 19(Suppl 11):361. PubMed ID: 30343665
[TBL] [Abstract][Full Text] [Related]
13. Detection of Nine Oncogenes Amplification in Lung and Colorectal Cancer Formalin-Fixed Paraffin-Embedded Tissue Samples using Combined Next-Generation Sequencing-Based Script and Digital Droplet Polymerase Chain Reaction.
Bontoux C; Guyard A; Lupo A; Diallo K; Rebah K; Hercent A; Guenzi E; Cros J; Lamoril J; Leroy K; Theou-Anton N
Cancer Control; 2023; 30():10732748231167257. PubMed ID: 37386758
[TBL] [Abstract][Full Text] [Related]
14. Detecting clinically actionable variants in the 3' exons of PMS2 via a reflex workflow based on equivalent hybrid capture of the gene and its pseudogene.
Gould GM; Grauman PV; Theilmann MR; Spurka L; Wang IE; Melroy LM; Chin RG; Hite DH; Chu CS; Maguire JR; Hogan GJ; Muzzey D
BMC Med Genet; 2018 Sep; 19(1):176. PubMed ID: 30268105
[TBL] [Abstract][Full Text] [Related]
15. Technical Validation of a Next-Generation Sequencing Assay for Detecting Clinically Relevant Levels of Breast Cancer-Related Single-Nucleotide Variants and Copy Number Variants Using Simulated Cell-Free DNA.
Yang X; Chu Y; Zhang R; Han Y; Zhang L; Fu Y; Li D; Peng R; Li D; Ding J; Li Z; Zhao M; Zhang K; Lu T; Yi L; Wu Q; Lin G; Xie J; Liu T; Yang L; Yi X; Li J
J Mol Diagn; 2017 Jul; 19(4):525-536. PubMed ID: 28502728
[TBL] [Abstract][Full Text] [Related]
16. FACETS: allele-specific copy number and clonal heterogeneity analysis tool for high-throughput DNA sequencing.
Shen R; Seshan VE
Nucleic Acids Res; 2016 Sep; 44(16):e131. PubMed ID: 27270079
[TBL] [Abstract][Full Text] [Related]
17. Development and Validation of a Next-Generation Sequencing Panel for Syndromic and Nonsyndromic Hearing Loss.
Butz M; McDonald A; Lundquist PA; Meyer M; Harrington S; Kester S; Stein MI; Mistry NA; Zimmerman Zuckerman E; Niu Z; Schimmenti L; Hasadsri L; Boczek NJ
J Appl Lab Med; 2020 May; 5(3):467-479. PubMed ID: 32445360
[TBL] [Abstract][Full Text] [Related]
18. Leveraging Unique Chromosomal Microarray Probes to Accurately Detect Copy Number at the Highly Homologous 15q15.3 Deafness-Infertility Syndrome Locus.
Sack LM; Mertens L; Murphy E; Hutchinson L; Giersch ABS; Mason-Suares H
Clin Chem; 2023 Jun; 69(6):583-594. PubMed ID: 37022747
[TBL] [Abstract][Full Text] [Related]
19. Copy Number Variation Analysis by Droplet Digital PCR.
Härmälä SK; Butcher R; Roberts CH
Methods Mol Biol; 2017; 1654():135-149. PubMed ID: 28986787
[TBL] [Abstract][Full Text] [Related]
20. Quantitative analysis of differences in copy numbers using read depth obtained from PCR-enriched samples and controls.
Reinecke F; Satya RV; DiCarlo J
BMC Bioinformatics; 2015 Jan; 16():17. PubMed ID: 25626454
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
