194 related articles for article (PubMed ID: 34980216)
1. 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]
2. 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]
3. Discovering single nucleotide variants and indels from bulk and single-cell ATAC-seq.
Massarat AR; Sen A; Jaureguy J; Tyndale ST; Fu Y; Erikson G; McVicker G
Nucleic Acids Res; 2021 Aug; 49(14):7986-7994. PubMed ID: 34313779
[TBL] [Abstract][Full Text] [Related]
4. 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]
5. ACMGA: a reference-free multiple-genome alignment pipeline for plant species.
Zhou H; Su X; Song B
BMC Genomics; 2024 May; 25(1):515. PubMed ID: 38796435
[TBL] [Abstract][Full Text] [Related]
6. Analytical and Clinical Validation of a Target-Enhanced Whole Genome Sequencing-Based Comprehensive Genomic Profiling Test.
Ferguson S; Sriram S; Wallace JK; Lee J; Kim JA; Lee Y; Oh BB; Lee WC; Lee S; Connolly-Strong E
Cancer Invest; 2024 May; 42(5):390-399. PubMed ID: 38773925
[TBL] [Abstract][Full Text] [Related]
7. 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]
8. Performance assessment of variant calling pipelines using human whole exome sequencing and simulated data.
Kumaran M; Subramanian U; Devarajan B
BMC Bioinformatics; 2019 Jun; 20(1):342. PubMed ID: 31208315
[TBL] [Abstract][Full Text] [Related]
9. Comparative analysis of whole-genome sequencing pipelines to minimize false negative findings.
Hwang KB; Lee IH; Li H; Won DG; Hernandez-Ferrer C; Negron JA; Kong SW
Sci Rep; 2019 Mar; 9(1):3219. PubMed ID: 30824715
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Tool evaluation for the detection of variably sized indels from next generation whole genome and targeted sequencing data.
Wang N; Lysenkov V; Orte K; Kairisto V; Aakko J; Khan S; Elo LL
PLoS Comput Biol; 2022 Feb; 18(2):e1009269. PubMed ID: 35176018
[TBL] [Abstract][Full Text] [Related]
13. Comparison of calling pipelines for whole genome sequencing: an empirical study demonstrating the importance of mapping and alignment.
Betschart RO; Thiéry A; Aguilera-Garcia D; Zoche M; Moch H; Twerenbold R; Zeller T; Blankenberg S; Ziegler A
Sci Rep; 2022 Dec; 12(1):21502. PubMed ID: 36513709
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. Systematic comparison of germline variant calling pipelines cross multiple next-generation sequencers.
Chen J; Li X; Zhong H; Meng Y; Du H
Sci Rep; 2019 Jun; 9(1):9345. PubMed ID: 31249349
[TBL] [Abstract][Full Text] [Related]
16. Performance comparison of whole-genome sequencing platforms.
Lam HY; Clark MJ; Chen R; Chen R; Natsoulis G; O'Huallachain M; Dewey FE; Habegger L; Ashley EA; Gerstein MB; Butte AJ; Ji HP; Snyder M
Nat Biotechnol; 2011 Dec; 30(1):78-82. PubMed ID: 22178993
[TBL] [Abstract][Full Text] [Related]
17. A practical method to detect SNVs and indels from whole genome and exome sequencing data.
Shigemizu D; Fujimoto A; Akiyama S; Abe T; Nakano K; Boroevich KA; Yamamoto Y; Furuta M; Kubo M; Nakagawa H; Tsunoda T
Sci Rep; 2013; 3():2161. PubMed ID: 23831772
[TBL] [Abstract][Full Text] [Related]
18. 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]
19. GCAT|Panel, a comprehensive structural variant haplotype map of the Iberian population from high-coverage whole-genome sequencing.
Valls-Margarit J; Galván-Femenía I; Matías-Sánchez D; Blay N; Puiggròs M; Carreras A; Salvoro C; Cortés B; Amela R; Farre X; Lerga-Jaso J; Puig M; Sánchez-Herrero JF; Moreno V; Perucho M; Sumoy L; Armengol L; Delaneau O; Cáceres M; de Cid R; Torrents D
Nucleic Acids Res; 2022 Mar; 50(5):2464-2479. PubMed ID: 35176773
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]
