184 related articles for article (PubMed ID: 38585854)
1. Long-read genome sequencing and variant reanalysis increase diagnostic yield in neurodevelopmental disorders.
Hiatt SM; Lawlor JMJ; Handley LH; Latner DR; Bonnstetter ZT; Finnila CR; Thompson ML; Boston LB; Williams M; Nunez IR; Jenkins J; Kelley WV; Bebin EM; Lopez MA; Hurst ACE; Korf BR; Schmutz J; Grimwood J; Cooper GM
medRxiv; 2024 Mar; ():. PubMed ID: 38585854
[TBL] [Abstract][Full Text] [Related]
2. Long-read sequencing and optical mapping generates near T2T assemblies that resolves a centromeric translocation.
Ten Berk de Boer E; Ameur A; Bunikis I; Ek M; Stattin EL; Feuk L; Eisfeldt J; Lindstrand A
Sci Rep; 2024 Apr; 14(1):9000. PubMed ID: 38637641
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. Long-read genome sequencing for the molecular diagnosis of neurodevelopmental disorders.
Hiatt SM; Lawlor JMJ; Handley LH; Ramaker RC; Rogers BB; Partridge EC; Boston LB; Williams M; Plott CB; Jenkins J; Gray DE; Holt JM; Bowling KM; Bebin EM; Grimwood J; Schmutz J; Cooper GM
HGG Adv; 2021 Apr; 2(2):. PubMed ID: 33937879
[TBL] [Abstract][Full Text] [Related]
5. Stepwise use of genomics and transcriptomics technologies increases diagnostic yield in Mendelian disorders.
Colin E; Duffourd Y; Chevarin M; Tisserant E; Verdez S; Paccaud J; Bruel AL; Tran Mau-Them F; Denommé-Pichon AS; Thevenon J; Safraou H; Besnard T; Goldenberg A; Cogné B; Isidor B; Delanne J; Sorlin A; Moutton S; Fradin M; Dubourg C; Gorce M; Bonneau D; El Chehadeh S; Debray FG; Doco-Fenzy M; Uguen K; Chatron N; Aral B; Marle N; Kuentz P; Boland A; Olaso R; Deleuze JF; Sanlaville D; Callier P; Philippe C; Thauvin-Robinet C; Faivre L; Vitobello A
Front Cell Dev Biol; 2023; 11():1021920. PubMed ID: 36926521
[No Abstract] [Full Text] [Related]
6. 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]
7. Preclinical workup using long-read amplicon sequencing provides families with de novo pathogenic variants access to universal preimplantation genetic testing.
Tsuiko O; El Ayeb Y; Jatsenko T; Allemeersch J; Melotte C; Ding J; Debrock S; Peeraer K; Vanhie A; De Leener A; Pirard C; Kluyskens C; Denayer E; Legius E; Vermeesch JR; Brems H; Dimitriadou E
Hum Reprod; 2023 Mar; 38(3):511-519. PubMed ID: 36625546
[TBL] [Abstract][Full Text] [Related]
8. Spectrum of variants in a large Chinese Gitelman syndrome cohort.
Mou L; Tang M; Zhu L; Lin W; Gu Y
Clin Genet; 2023 Dec; 104(6):674-678. PubMed ID: 37702302
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. The Diagnostic Yield and Difficulties of Utilizing Soft-clipped Read Clusters Encountered in Clinical Exome Sequencing.
Kim YG; Lee NY; Ham JY; Lee T; Ki CS; Song KE
Clin Lab; 2023 Apr; 69(4):. PubMed ID: 37057930
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. ONT long-read WGS for variant discovery and orthogonal confirmation of short read WGS derived genetic variants in clinical genetic testing.
Kaplun L; Krautz-Peterson G; Neerman N; Stanley C; Hussey S; Folwick M; McGarry A; Weiss S; Kaplun A
Front Genet; 2023; 14():1145285. PubMed ID: 37152986
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. Targeted long-read sequencing identified a causal structural variant in X-linked nephrogenic diabetes insipidus.
Strych L; Černá M; Hejnalová M; Zavoral T; Komrsková P; Tejcová J; Bitar I; Sládková E; Sýkora J; Šubrt I
BMC Med Genomics; 2024 Jan; 17(1):29. PubMed ID: 38254165
[TBL] [Abstract][Full Text] [Related]
15. Reanalysis of whole-exome sequencing (WES) data of children with neurodevelopmental disorders in a standard patient care context.
van Slobbe M; van Haeringen A; Vissers LELM; Bijlsma EK; Rutten JW; Suerink M; Nibbeling EAR; Ruivenkamp CAL; Koene S
Eur J Pediatr; 2024 Jan; 183(1):345-355. PubMed ID: 37889289
[TBL] [Abstract][Full Text] [Related]
16. Mind the gap: the relevance of the genome reference to resolve rare and pathogenic inversions.
Bilgrav Saether K; Eisfeldt J; Bengtsson J; Lun MY; Grochowski CM; Mahmoud M; Chao HT; Rosenfeld JA; Liu P; Schuy J; Ameur A; ; Hwang JP; Sedlazeck FJ; Bi W; Marom R; Nordgren A; Carvalho CMB; Lindstrand A
medRxiv; 2024 Apr; ():. PubMed ID: 38712270
[TBL] [Abstract][Full Text] [Related]
17. Genome-wide sequencing as a first-tier screening test for short tandem repeat expansions.
Rajan-Babu IS; Peng JJ; Chiu R; ; ; Li C; Mohajeri A; Dolzhenko E; Eberle MA; Birol I; Friedman JM
Genome Med; 2021 Aug; 13(1):126. PubMed ID: 34372915
[TBL] [Abstract][Full Text] [Related]
18. Expectations and blind spots for structural variation detection from long-read assemblies and short-read genome sequencing technologies.
Zhao X; Collins RL; Lee WP; Weber AM; Jun Y; Zhu Q; Weisburd B; Huang Y; Audano PA; Wang H; Walker M; Lowther C; Fu J; ; Gerstein MB; Devine SE; Marschall T; Korbel JO; Eichler EE; Chaisson MJP; Lee C; Mills RE; Brand H; Talkowski ME
Am J Hum Genet; 2021 May; 108(5):919-928. PubMed ID: 33789087
[TBL] [Abstract][Full Text] [Related]
19. Genome sequencing identifies rare tandem repeat expansions and copy number variants in Lennox-Gastaut syndrome.
Qaiser F; Sadoway T; Yin Y; Zulfiqar Ali Q; Nguyen CM; Shum N; Backstrom I; Marques PT; Tabarestani S; Munhoz RP; Krings T; Pearson CE; Yuen RKC; Andrade DM
Brain Commun; 2021; 3(3):fcab207. PubMed ID: 34622207
[TBL] [Abstract][Full Text] [Related]
20. Targeted long-read sequencing identifies missing disease-causing variation.
Miller DE; Sulovari A; Wang T; Loucks H; Hoekzema K; Munson KM; Lewis AP; Fuerte EPA; Paschal CR; Walsh T; Thies J; Bennett JT; Glass I; Dipple KM; Patterson K; Bonkowski ES; Nelson Z; Squire A; Sikes M; Beckman E; Bennett RL; Earl D; Lee W; Allikmets R; Perlman SJ; Chow P; Hing AV; Wenger TL; Adam MP; Sun A; Lam C; Chang I; Zou X; Austin SL; Huggins E; Safi A; Iyengar AK; Reddy TE; Majoros WH; Allen AS; Crawford GE; Kishnani PS; ; King MC; Cherry T; Chong JX; Bamshad MJ; Nickerson DA; Mefford HC; Doherty D; Eichler EE
Am J Hum Genet; 2021 Aug; 108(8):1436-1449. PubMed ID: 34216551
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
