126 related articles for article (PubMed ID: 38746462)
1. Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing.
Steyaert W; Sagath L; Demidov G; Yépez VA; Esteve-Codina A; Gagneur J; Ellwanger K; Derks R; Weiss M; den Ouden A; van den Heuvel S; Swinkels H; Zomer N; Steehouwer M; O'Gorman L; Astuti G; Neveling K; Schüle R; Xu J; Synofzik M; Beijer D; Hengel H; Schöls L; Claeys KG; Baets J; Van de Vondel L; Ferlini A; Selvatici R; Morsy H; Saeed Abd Elmaksoud M; Straub V; Müller J; Pini V; Perry L; Sarkozy A; Zaharieva I; Muntoni F; Bugiardini E; Polavarapu K; Horvath R; Reid E; Lochmüller H; Spinazzi M; Savarese M; ; ; ; ; Matalonga L; Laurie S; Brunner HG; Graessner H; Beltran S; Ossowski S; Vissers LELM; Gilissen C; Hoischen A
medRxiv; 2024 May; ():. PubMed ID: 38746462
[TBL] [Abstract][Full Text] [Related]
2. Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Kucuk E; van der Sanden BPGH; O'Gorman L; Kwint M; Derks R; Wenger AM; Lambert C; Chakraborty S; Baybayan P; Rowell WJ; Brunner HG; Vissers LELM; Hoischen A; Gilissen C
Genome Med; 2023 May; 15(1):34. PubMed ID: 37158973
[TBL] [Abstract][Full Text] [Related]
3. Genomic answers for children: Dynamic analyses of >1000 pediatric rare disease genomes.
Cohen ASA; Farrow EG; Abdelmoity AT; Alaimo JT; Amudhavalli SM; Anderson JT; Bansal L; Bartik L; Baybayan P; Belden B; Berrios CD; Biswell RL; Buczkowicz P; Buske O; Chakraborty S; Cheung WA; Coffman KA; Cooper AM; Cross LA; Curran T; Dang TTT; Elfrink MM; Engleman KL; Fecske ED; Fieser C; Fitzgerald K; Fleming EA; Gadea RN; Gannon JL; Gelineau-Morel RN; Gibson M; Goldstein J; Grundberg E; Halpin K; Harvey BS; Heese BA; Hein W; Herd SM; Hughes SS; Ilyas M; Jacobson J; Jenkins JL; Jiang S; Johnston JJ; Keeler K; Korlach J; Kussmann J; Lambert C; Lawson C; Le Pichon JB; Leeder JS; Little VC; Louiselle DA; Lypka M; McDonald BD; Miller N; Modrcin A; Nair A; Neal SH; Oermann CM; Pacicca DM; Pawar K; Posey NL; Price N; Puckett LMB; Quezada JF; Raje N; Rowell WJ; Rush ET; Sampath V; Saunders CJ; Schwager C; Schwend RM; Shaffer E; Smail C; Soden S; Strenk ME; Sullivan BR; Sweeney BR; Tam-Williams JB; Walter AM; Welsh H; Wenger AM; Willig LK; Yan Y; Younger ST; Zhou D; Zion TN; Thiffault I; Pastinen T
Genet Med; 2022 Jun; 24(6):1336-1348. PubMed ID: 35305867
[TBL] [Abstract][Full Text] [Related]
4. HiFi long-read amplicon sequencing for full-spectrum variants of human mtDNA.
Lin Y; Wang J; Xu R; Xu Z; Wang Y; Pan S; Zhang Y; Tao Q; Zhao Y; Yan C; Cao Z; Ji K
BMC Genomics; 2024 May; 25(1):538. PubMed ID: 38822239
[TBL] [Abstract][Full Text] [Related]
5. Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort.
Cheung WA; Johnson AF; Rowell WJ; Farrow E; Hall R; Cohen ASA; Means JC; Zion TN; Portik DM; Saunders CT; Koseva B; Bi C; Truong TK; Schwendinger-Schreck C; Yoo B; Johnston JJ; Gibson M; Evrony G; Rizzo WB; Thiffault I; Younger ST; Curran T; Wenger AM; Grundberg E; Pastinen T
Nat Commun; 2023 May; 14(1):3090. PubMed ID: 37248219
[TBL] [Abstract][Full Text] [Related]
6. Integration of transcriptomics and long-read genomics prioritizes structural variants in rare disease.
Jensen TD; Ni B; Reuter CM; Gorzynski JE; Fazal S; Bonner D; Ungar RA; Goddard PC; Raja A; Ashley EA; Bernstein JA; Zuchner S; ; Greicius MD; Montgomery SB; Schatz MC; Wheeler MT; Battle A
medRxiv; 2024 Mar; ():. PubMed ID: 38585781
[TBL] [Abstract][Full Text] [Related]
7. Genome sequencing with comprehensive variant calling identifies structural variants and repeat expansions in a large fraction of individuals with ataxia and/or neuromuscular disorders.
Ek M; Nilsson D; Engvall M; Malmgren H; Thonberg H; Pettersson M; Anderlid BM; Hammarsjö A; Helgadottir HT; Arnardottir S; Naess K; Nennesmo I; Paucar M; Hjartarson HT; Press R; Solders G; Sejersen T; Lindstrand A; Kvarnung M
Front Neurol; 2023; 14():1170005. PubMed ID: 37273706
[TBL] [Abstract][Full Text] [Related]
8. Integration of whole genome sequencing into a healthcare setting: high diagnostic rates across multiple clinical entities in 3219 rare disease patients.
Stranneheim H; Lagerstedt-Robinson K; Magnusson M; Kvarnung M; Nilsson D; Lesko N; Engvall M; Anderlid BM; Arnell H; Johansson CB; Barbaro M; Björck E; Bruhn H; Eisfeldt J; Freyer C; Grigelioniene G; Gustavsson P; Hammarsjö A; Hellström-Pigg M; Iwarsson E; Jemt A; Laaksonen M; Enoksson SL; Malmgren H; Naess K; Nordenskjöld M; Oscarson M; Pettersson M; Rasi C; Rosenbaum A; Sahlin E; Sardh E; Stödberg T; Tesi B; Tham E; Thonberg H; Töhönen V; von Döbeln U; Vassiliou D; Vonlanthen S; Wikström AC; Wincent J; Winqvist O; Wredenberg A; Ygberg S; Zetterström RH; Marits P; Soller MJ; Nordgren A; Wirta V; Lindstrand A; Wedell A
Genome Med; 2021 Mar; 13(1):40. PubMed ID: 33726816
[TBL] [Abstract][Full Text] [Related]
9. Genome sequencing and comprehensive rare-variant analysis of 465 families with neurodevelopmental disorders.
Sanchis-Juan A; Megy K; Stephens J; Armirola Ricaurte C; Dewhurst E; Low K; French CE; Grozeva D; Stirrups K; Erwood M; McTague A; Penkett CJ; Shamardina O; Tuna S; Daugherty LC; Gleadall N; Duarte ST; Hedrera-Fernández A; Vogt J; Ambegaonkar G; Chitre M; Josifova D; Kurian MA; Parker A; Rankin J; Reid E; Wakeling E; Wassmer E; Woods CG; ; Raymond FL; Carss KJ
Am J Hum Genet; 2023 Aug; 110(8):1343-1355. PubMed ID: 37541188
[TBL] [Abstract][Full Text] [Related]
10. Whole-genome long-read sequencing downsampling and its effect on variant calling precision and recall.
Harvey WT; Ebert P; Ebler J; Audano PA; Munson KM; Hoekzema K; Porubsky D; Beck CR; Marschall T; Garimella K; Eichler EE
bioRxiv; 2023 May; ():. PubMed ID: 37205567
[TBL] [Abstract][Full Text] [Related]
11. Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S; Wang M; Qian X; Li Y; Wang K; Choi J; Pennesi ME; Yang P; Marra M; Koenekoop RK; Lopez I; Matynia A; Gorin M; Sui R; Yao F; Goetz K; Porto FBO; Chen R
bioRxiv; 2023 Jan; ():. PubMed ID: 36789417
[TBL] [Abstract][Full Text] [Related]
12. Diagnostic and clinical utility of whole genome sequencing in a cohort of undiagnosed Chinese families with rare diseases.
Liu HY; Zhou L; Zheng MY; Huang J; Wan S; Zhu A; Zhang M; Dong A; Hou L; Li J; Xu H; Lu B; Lu W; Liu P; Lu Y
Sci Rep; 2019 Dec; 9(1):19365. PubMed ID: 31852928
[TBL] [Abstract][Full Text] [Related]
13. Whole-genome long-read sequencing downsampling and its effect on variant-calling precision and recall.
Harvey WT; Ebert P; Ebler J; Audano PA; Munson KM; Hoekzema K; Porubsky D; Beck CR; Marschall T; Garimella K; Eichler EE
Genome Res; 2023 Dec; 33(12):2029-2040. PubMed ID: 38190646
[TBL] [Abstract][Full Text] [Related]
14. Systematic assessment of the contribution of structural variants to inherited retinal diseases.
Wen S; Wang M; Qian X; Li Y; Wang K; Choi J; Pennesi ME; Yang P; Marra M; Koenekoop RK; Lopez I; Matynia A; Gorin M; Sui R; Yao F; Goetz K; Porto FBO; Chen R
Hum Mol Genet; 2023 Jun; 32(12):2005-2015. PubMed ID: 36811936
[TBL] [Abstract][Full Text] [Related]
15. Structural variant calling and clinical interpretation in 6224 unsolved rare disease exomes.
Demidov G; Laurie S; Torella A; Piluso G; Scala M; Morleo M; Nigro V; Graessner H; Banka S; ; Lohmann K; Ossowski S
Eur J Hum Genet; 2024 May; ():. PubMed ID: 38822122
[TBL] [Abstract][Full Text] [Related]
16. Long-Read Sequencing to Unravel Complex Structural Variants of
Ascari G; Rendtorff ND; De Bruyne M; De Zaeytijd J; Van Lint M; Bauwens M; Van Heetvelde M; Arno G; Jacob J; Creytens D; Van Dorpe J; Van Laethem T; Rosseel T; De Pooter T; De Rijk P; De Coster W; Menten B; Rey AD; Strazisar M; Bertelsen M; Tranebjaerg L; De Baere E
Front Cell Dev Biol; 2021; 9():664317. PubMed ID: 33968938
[TBL] [Abstract][Full Text] [Related]
17. Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
Fernández-Suárez E; González-Del Pozo M; Méndez-Vidal C; Martín-Sánchez M; Mena M; de la Morena-Barrio B; Corral J; Borrego S; Antiñolo G
Mob DNA; 2024 May; 15(1):9. PubMed ID: 38704576
[TBL] [Abstract][Full Text] [Related]
18. Integration of multi-omics technologies for molecular diagnosis in ataxia patients.
Audet S; Triassi V; Gelinas M; Legault-Cadieux N; Ferraro V; Duquette A; Tetreault M
Front Genet; 2023; 14():1304711. PubMed ID: 38239855
[No Abstract] [Full Text] [Related]
19. Long-Read Sequencing Identifies the First Retrotransposon Insertion and Resolves Structural Variants Causing Antithrombin Deficiency.
de la Morena-Barrio B; Stephens J; de la Morena-Barrio ME; Stefanucci L; Padilla J; Miñano A; Gleadall N; García JL; López-Fernández MF; Morange PE; Puurunen M; Undas A; Vidal F; Raymond FL; Vicente V; Ouwehand WH; Corral J; Sanchis-Juan A;
Thromb Haemost; 2022 Aug; 122(8):1369-1378. PubMed ID: 35764313
[TBL] [Abstract][Full Text] [Related]
20. Pangenome graphs improve the analysis of structural variants in rare genetic diseases.
Groza C; Schwendinger-Schreck C; Cheung WA; Farrow EG; Thiffault I; Lake J; Rizzo WB; Evrony G; Curran T; Bourque G; Pastinen T
Nat Commun; 2024 Jan; 15(1):657. PubMed ID: 38253606
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
