437 related articles for article (PubMed ID: 23893877)
1. Detection of clinically relevant copy number variants with whole-exome sequencing.
de Ligt J; Boone PM; Pfundt R; Vissers LE; Richmond T; Geoghegan J; O'Moore K; de Leeuw N; Shaw C; Brunner HG; Lupski JR; Veltman JA; Hehir-Kwa JY
Hum Mutat; 2013 Oct; 34(10):1439-48. PubMed ID: 23893877
[TBL] [Abstract][Full Text] [Related]
2. Platform comparison of detecting copy number variants with microarrays and whole-exome sequencing.
de Ligt J; Boone PM; Pfundt R; Vissers LE; de Leeuw N; Shaw C; Brunner HG; Lupski JR; Veltman JA; Hehir-Kwa JY
Genom Data; 2014 Dec; 2():144-146. PubMed ID: 26258046
[TBL] [Abstract][Full Text] [Related]
3. CoDE-seq, an augmented whole-exome sequencing, enables the accurate detection of CNVs and mutations in Mendelian obesity and intellectual disability.
Montagne L; Derhourhi M; Piton A; Toussaint B; Durand E; Vaillant E; Thuillier D; Gaget S; De Graeve F; Rabearivelo I; Lansiaux A; Lenne B; Sukno S; Desailloud R; Cnop M; Nicolescu R; Cohen L; Zagury JF; Amouyal M; Weill J; Muller J; Sand O; Delobel B; Froguel P; Bonnefond A
Mol Metab; 2018 Jul; 13():1-9. PubMed ID: 29784605
[TBL] [Abstract][Full Text] [Related]
4. Copy number variants calling from WES data through eXome hidden Markov model (XHMM) identifies additional 2.5% pathogenic genomic imbalances smaller than 30 kb undetected by array-CGH.
Tisserant E; Vitobello A; Callegarin D; Verdez S; Bruel AL; Aho Glele LS; Sorlin A; Viora-Dupont E; Konyukh M; Marle N; Nambot S; Moutton S; Racine C; Garde A; Delanne J; Tran-Mau-Them F; Philippe C; Kuentz P; Poulleau M; Payet M; Poe C; Thauvin-Robinet C; Faivre L; Mosca-Boidron AL; Thevenon J; Duffourd Y; Callier P
Ann Hum Genet; 2022 Jul; 86(4):171-180. PubMed ID: 35141892
[TBL] [Abstract][Full Text] [Related]
5. Detection of copy number variations in epilepsy using exome data.
Tsuchida N; Nakashima M; Kato M; Heyman E; Inui T; Haginoya K; Watanabe S; Chiyonobu T; Morimoto M; Ohta M; Kumakura A; Kubota M; Kumagai Y; Hamano SI; Lourenco CM; Yahaya NA; Ch'ng GS; Ngu LH; Fattal-Valevski A; Weisz Hubshman M; Orenstein N; Marom D; Cohen L; Goldberg-Stern H; Uchiyama Y; Imagawa E; Mizuguchi T; Takata A; Miyake N; Nakajima H; Saitsu H; Miyatake S; Matsumoto N
Clin Genet; 2018 Mar; 93(3):577-587. PubMed ID: 28940419
[TBL] [Abstract][Full Text] [Related]
6. Evaluation of somatic copy number estimation tools for whole-exome sequencing data.
Nam JY; Kim NK; Kim SC; Joung JG; Xi R; Lee S; Park PJ; Park WY
Brief Bioinform; 2016 Mar; 17(2):185-92. PubMed ID: 26210357
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Application of whole-exome sequencing for detecting copy number variants in CMT1A/HNPP.
Jo HY; Park MH; Woo HM; Han MH; Kim BY; Choi BO; Chung KW; Koo SK
Clin Genet; 2016 Aug; 90(2):177-81. PubMed ID: 26662885
[TBL] [Abstract][Full Text] [Related]
9. CNV analysis using whole exome sequencing identified biallelic CNVs of VPS13B in siblings with intellectual disability.
Enomoto Y; Tsurusaki Y; Yokoi T; Abe-Hatano C; Ida K; Naruto T; Mitsui J; Tsuji S; Morishita S; Kurosawa K
Eur J Med Genet; 2020 Jan; 63(1):103610. PubMed ID: 30602132
[TBL] [Abstract][Full Text] [Related]
10. Germline CNV Detection through Whole-Exome Sequencing (WES) Data Analysis Enhances Resolution of Rare Genetic Diseases.
Tilemis FN; Marinakis NM; Veltra D; Svingou M; Kekou K; Mitrakos A; Tzetis M; Kosma K; Makrythanasis P; Traeger-Synodinos J; Sofocleous C
Genes (Basel); 2023 Jul; 14(7):. PubMed ID: 37510394
[TBL] [Abstract][Full Text] [Related]
11. Increasing the diagnostic yield of exome sequencing by copy number variant analysis.
Marchuk DS; Crooks K; Strande N; Kaiser-Rogers K; Milko LV; Brandt A; Arreola A; Tilley CR; Bizon C; Vora NL; Wilhelmsen KC; Evans JP; Berg JS
PLoS One; 2018; 13(12):e0209185. PubMed ID: 30557390
[TBL] [Abstract][Full Text] [Related]
12. Detecting copy-number variations in whole-exome sequencing data using the eXome Hidden Markov Model: an 'exome-first' approach.
Miyatake S; Koshimizu E; Fujita A; Fukai R; Imagawa E; Ohba C; Kuki I; Nukui M; Araki A; Makita Y; Ogata T; Nakashima M; Tsurusaki Y; Miyake N; Saitsu H; Matsumoto N
J Hum Genet; 2015 Apr; 60(4):175-82. PubMed ID: 25608832
[TBL] [Abstract][Full Text] [Related]
13. Genomic testing for copy number and single nucleotide variants in spermatogenic failure.
Hardy J; Pollock N; Gingrich T; Sweet P; Ramesh A; Kuong J; Basar A; Jiang H; Hwang K; Vukina J; Jaffe T; Olszewska M; Kurpisz M; Yatsenko AN
J Assist Reprod Genet; 2022 Sep; 39(9):2103-2114. PubMed ID: 35849255
[TBL] [Abstract][Full Text] [Related]
14. Enhanced copy number variants detection from whole-exome sequencing data using EXCAVATOR2.
D'Aurizio R; Pippucci T; Tattini L; Giusti B; Pellegrini M; Magi A
Nucleic Acids Res; 2016 Nov; 44(20):e154. PubMed ID: 27507884
[TBL] [Abstract][Full Text] [Related]
15. Assessing copy number from exome sequencing and exome array CGH based on CNV spectrum in a large clinical cohort.
Retterer K; Scuffins J; Schmidt D; Lewis R; Pineda-Alvarez D; Stafford A; Schmidt L; Warren S; Gibellini F; Kondakova A; Blair A; Bale S; Matyakhina L; Meck J; Aradhya S; Haverfield E
Genet Med; 2015 Aug; 17(8):623-9. PubMed ID: 25356966
[TBL] [Abstract][Full Text] [Related]
16. Exome sequencing and whole genome sequencing for the detection of copy number variation.
Hehir-Kwa JY; Pfundt R; Veltman JA
Expert Rev Mol Diagn; 2015; 15(8):1023-32. PubMed ID: 26088785
[TBL] [Abstract][Full Text] [Related]
17. Incorporation of exome-based CNV analysis makes trio-WES a more powerful tool for clinical diagnosis in neurodevelopmental disorders: A retrospective study.
Zhai Y; Zhang Z; Shi P; Martin DM; Kong X
Hum Mutat; 2021 Aug; 42(8):990-1004. PubMed ID: 34015165
[TBL] [Abstract][Full Text] [Related]
18. Detection of clinically relevant copy-number variants by exome sequencing in a large cohort of genetic disorders.
Pfundt R; Del Rosario M; Vissers LELM; Kwint MP; Janssen IM; de Leeuw N; Yntema HG; Nelen MR; Lugtenberg D; Kamsteeg EJ; Wieskamp N; Stegmann APA; Stevens SJC; Rodenburg RJT; Simons A; Mensenkamp AR; Rinne T; Gilissen C; Scheffer H; Veltman JA; Hehir-Kwa JY
Genet Med; 2017 Jun; 19(6):667-675. PubMed ID: 28574513
[TBL] [Abstract][Full Text] [Related]
19. Discovery and statistical genotyping of copy-number variation from whole-exome sequencing depth.
Fromer M; Moran JL; Chambert K; Banks E; Bergen SE; Ruderfer DM; Handsaker RE; McCarroll SA; O'Donovan MC; Owen MJ; Kirov G; Sullivan PF; Hultman CM; Sklar P; Purcell SM
Am J Hum Genet; 2012 Oct; 91(4):597-607. PubMed ID: 23040492
[TBL] [Abstract][Full Text] [Related]
20. Exome sequencing as a first-tier test for copy number variant detection: retrospective evaluation and prospective screening in 2418 cases.
Testard Q; Vanhoye X; Yauy K; Naud ME; Vieville G; Rousseau F; Dauriat B; Marquet V; Bourthoumieu S; Geneviève D; Gatinois V; Wells C; Willems M; Coubes C; Pinson L; Dard R; Tessier A; Hervé B; Vialard F; Harzallah I; Touraine R; Cogné B; Deb W; Besnard T; Pichon O; Laudier B; Mesnard L; Doreille A; Busa T; Missirian C; Satre V; Coutton C; Celse T; Harbuz R; Raymond L; Taly JF; Thevenon J
J Med Genet; 2022 Dec; 59(12):1234-1240. PubMed ID: 36137615
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]