151 related articles for article (PubMed ID: 35451387)
1. Performance characterization of PCR-free whole genome sequencing for clinical diagnosis.
Zhou G; Zhou M; Zeng F; Zhang N; Sun Y; Qiao Z; Guo X; Zhou S; Yun G; Xie J; Wang X; Liu F; Fan C; Wang Y; Fang Z; Tian Z; Dai W; Sun J; Peng Z; Song L
Medicine (Baltimore); 2022 Mar; 101(10):e28972. PubMed ID: 35451387
[TBL] [Abstract][Full Text] [Related]
2. Characterizing sensitivity and coverage of clinical WGS as a diagnostic test for genetic disorders.
Sun Y; Liu F; Fan C; Wang Y; Song L; Fang Z; Han R; Wang Z; Wang X; Yang Z; Xu Z; Peng J; Shi C; Zhang H; Dong W; Huang H; Li Y; Le Y; Sun J; Peng Z
BMC Med Genomics; 2021 Apr; 14(1):102. PubMed ID: 33849535
[TBL] [Abstract][Full Text] [Related]
3. Performance of copy number variants detection based on whole-genome sequencing by DNBSEQ platforms.
Rao J; Peng L; Liang X; Jiang H; Geng C; Zhao X; Liu X; Fan G; Chen F; Mu F
BMC Bioinformatics; 2020 Nov; 21(1):518. PubMed ID: 33176676
[TBL] [Abstract][Full Text] [Related]
4. A comparative investigation of single nucleotide variant calling for a personal non-Caucasian sequencing sample.
Park H; Gim J
Genes Genomics; 2023 Dec; 45(12):1527-1536. PubMed ID: 37651066
[TBL] [Abstract][Full Text] [Related]
5. Test development, optimization and validation of a WGS pipeline for genetic disorders.
Yang Z; Yang X; Sun Y; Wang Y; Song L; Qiao Z; Fang Z; Wang Z; Liu L; Chen Y; Yan S; Guo X; Zhang J; Fan C; Liu F; Peng Z; Peng H; Sun J; Chen W
BMC Med Genomics; 2023 Apr; 16(1):74. PubMed ID: 37020281
[TBL] [Abstract][Full Text] [Related]
6. Whole-genome sequencing is more powerful than whole-exome sequencing for detecting exome variants.
Belkadi A; Bolze A; Itan Y; Cobat A; Vincent QB; Antipenko A; Shang L; Boisson B; Casanova JL; Abel L
Proc Natl Acad Sci U S A; 2015 Apr; 112(17):5473-8. PubMed ID: 25827230
[TBL] [Abstract][Full Text] [Related]
7. Analytical validation of whole exome and whole genome sequencing for clinical applications.
Linderman MD; Brandt T; Edelmann L; Jabado O; Kasai Y; Kornreich R; Mahajan M; Shah H; Kasarskis A; Schadt EE
BMC Med Genomics; 2014 Apr; 7():20. PubMed ID: 24758382
[TBL] [Abstract][Full Text] [Related]
8. Evaluation of the performance of copy number variant prediction tools for the detection of deletions from whole genome sequencing data.
Whitford W; Lehnert K; Snell RG; Jacobsen JC
J Biomed Inform; 2019 Jun; 94():103174. PubMed ID: 30965134
[TBL] [Abstract][Full Text] [Related]
9. Long insert whole genome sequencing for copy number variant and translocation detection.
Liang WS; Aldrich J; Tembe W; Kurdoglu A; Cherni I; Phillips L; Reiman R; Baker A; Weiss GJ; Carpten JD; Craig DW
Nucleic Acids Res; 2014 Jan; 42(2):e8. PubMed ID: 24071583
[TBL] [Abstract][Full Text] [Related]
10. Whole-genome sequencing analysis of CNV using low-coverage and paired-end strategies is efficient and outperforms array-based CNV analysis.
Zhou B; Ho SS; Zhang X; Pattni R; Haraksingh RR; Urban AE
J Med Genet; 2018 Nov; 55(11):735-743. PubMed ID: 30061371
[TBL] [Abstract][Full Text] [Related]
11. Performance comparisons of methylation and structural variants from low-input whole-genome methylation sequencing.
Sun Z; Behati S; Wang P; Bhagwate A; McDonough S; Wang V; Taylor W; Cunningham J; Kisiel J
Epigenomics; 2023 Jan; 15(1):11-19. PubMed ID: 36919677
[No Abstract] [Full Text] [Related]
12. Validated WGS and WES protocols proved saliva-derived gDNA as an equivalent to blood-derived gDNA for clinical and population genomic analyses.
Kvapilova K; Misenko P; Radvanszky J; Brzon O; Budis J; Gazdarica J; Pos O; Korabecna M; Kasny M; Szemes T; Kvapil P; Paces J; Kozmik Z
BMC Genomics; 2024 Feb; 25(1):187. PubMed ID: 38365587
[TBL] [Abstract][Full Text] [Related]
13. Reducing INDEL calling errors in whole genome and exome sequencing data.
Fang H; Wu Y; Narzisi G; O'Rawe JA; Barrón LT; Rosenbaum J; Ronemus M; Iossifov I; Schatz MC; Lyon GJ
Genome Med; 2014; 6(10):89. PubMed ID: 25426171
[TBL] [Abstract][Full Text] [Related]
14. Assessing reproducibility of inherited variants detected with short-read whole genome sequencing.
Pan B; Ren L; Onuchic V; Guan M; Kusko R; Bruinsma S; Trigg L; Scherer A; Ning B; Zhang C; Glidewell-Kenney C; Xiao C; Donaldson E; Sedlazeck FJ; Schroth G; Yavas G; Grunenwald H; Chen H; Meinholz H; Meehan J; Wang J; Yang J; Foox J; Shang J; Miclaus K; Dong L; Shi L; Mohiyuddin M; Pirooznia M; Gong P; Golshani R; Wolfinger R; Lababidi S; Sahraeian SME; Sherry S; Han T; Chen T; Shi T; Hou W; Ge W; Zou W; Guo W; Bao W; Xiao W; Fan X; Gondo Y; Yu Y; Zhao Y; Su Z; Liu Z; Tong W; Xiao W; Zook JM; Zheng Y; Hong H
Genome Biol; 2022 Jan; 23(1):2. PubMed ID: 34980216
[TBL] [Abstract][Full Text] [Related]
15. Quality of whole genome sequencing from blood versus saliva derived DNA in cardiac patients.
Yao RA; Akinrinade O; Chaix M; Mital S
BMC Med Genomics; 2020 Jan; 13(1):11. PubMed ID: 31996208
[TBL] [Abstract][Full Text] [Related]
16. From cytogenetics to cytogenomics: whole-genome sequencing as a first-line test comprehensively captures the diverse spectrum of disease-causing genetic variation underlying intellectual disability.
Lindstrand A; Eisfeldt J; Pettersson M; Carvalho CMB; Kvarnung M; Grigelioniene G; Anderlid BM; Bjerin O; Gustavsson P; Hammarsjö A; Georgii-Hemming P; Iwarsson E; Johansson-Soller M; Lagerstedt-Robinson K; Lieden A; Magnusson M; Martin M; Malmgren H; Nordenskjöld M; Norling A; Sahlin E; Stranneheim H; Tham E; Wincent J; Ygberg S; Wedell A; Wirta V; Nordgren A; Lundin J; Nilsson D
Genome Med; 2019 Nov; 11(1):68. PubMed ID: 31694722
[TBL] [Abstract][Full Text] [Related]
17. Assessing single nucleotide variant detection and genotype calling on whole-genome sequenced individuals.
Cheng AY; Teo YY; Ong RT
Bioinformatics; 2014 Jun; 30(12):1707-13. PubMed ID: 24558117
[TBL] [Abstract][Full Text] [Related]
18. A clinically validated whole genome pipeline for structural variant detection and analysis.
Neerman N; Faust G; Meeks N; Modai S; Kalfon L; Falik-Zaccai T; Kaplun A
BMC Genomics; 2019 Jul; 20(Suppl 8):545. PubMed ID: 31307387
[TBL] [Abstract][Full Text] [Related]
19. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M; Evani US; Zhao X; Basile AO; Abel HJ; Regier AA; Corvelo A; Clarke WE; Musunuri R; Nagulapalli K; Fairley S; Runnels A; Winterkorn L; Lowy E; ; Paul Flicek ; Germer S; Brand H; Hall IM; Talkowski ME; Narzisi G; Zody MC
Cell; 2022 Sep; 185(18):3426-3440.e19. PubMed ID: 36055201
[TBL] [Abstract][Full Text] [Related]
20. Comparison of whole-genome (13X) and capture (87X) resequencing methods for SNP and genotype callings.
Roux PF; Marthey S; Djari A; Moroldo M; Esquerré D; Estellé J; Klopp C; Lagarrigue S; Demeure O
Anim Genet; 2015 Feb; 46(1):82-6. PubMed ID: 25515399
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
