These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.
332 related articles for article (PubMed ID: 33271988)
1. A Long-Read Sequencing Approach for Direct Haplotype Phasing in Clinical Settings. Maestri S; Maturo MG; Cosentino E; Marcolungo L; Iadarola B; Fortunati E; Rossato M; Delledonne M Int J Mol Sci; 2020 Dec; 21(23):. PubMed ID: 33271988 [TBL] [Abstract][Full Text] [Related]
2. miniSNV: accurate and fast single nucleotide variant calling from nanopore sequencing data. Cui M; Liu Y; Yu X; Guo H; Jiang T; Wang Y; Liu B Brief Bioinform; 2024 Sep; 25(6):. PubMed ID: 39331016 [TBL] [Abstract][Full Text] [Related]
3. 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]
4. DCHap: A Divide-and-Conquer Haplotype Phasing Algorithm for Third-Generation Sequences. Li Y; Lin Y IEEE/ACM Trans Comput Biol Bioinform; 2022; 19(3):1277-1284. PubMed ID: 32750878 [TBL] [Abstract][Full Text] [Related]
5. HapCUT2: A Method for Phasing Genomes Using Experimental Sequence Data. Bansal V Methods Mol Biol; 2023; 2590():139-147. PubMed ID: 36335497 [TBL] [Abstract][Full Text] [Related]
6. Local read haplotagging enables accurate long-read small variant calling. Kolesnikov A; Cook D; Nattestad M; Brambrink L; McNulty B; Gorzynski J; Goenka S; Ashley EA; Jain M; Miga KH; Paten B; Chang PC; Carroll A; Shafin K Nat Commun; 2024 Jul; 15(1):5907. PubMed ID: 39003259 [TBL] [Abstract][Full Text] [Related]
7. Benchmarking reveals superiority of deep learning variant callers on bacterial nanopore sequence data. Hall MB; Wick RR; Judd LM; Nguyen AN; Steinig EJ; Xie O; Davies M; Seemann T; Stinear TP; Coin L Elife; 2024 Oct; 13():. PubMed ID: 39388235 [TBL] [Abstract][Full Text] [Related]
8. Haplotype-aware variant calling with PEPPER-Margin-DeepVariant enables high accuracy in nanopore long-reads. Shafin K; Pesout T; Chang PC; Nattestad M; Kolesnikov A; Goel S; Baid G; Kolmogorov M; Eizenga JM; Miga KH; Carnevali P; Jain M; Carroll A; Paten B Nat Methods; 2021 Nov; 18(11):1322-1332. PubMed ID: 34725481 [TBL] [Abstract][Full Text] [Related]
9. Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data. Yang WY; Hormozdiari F; Wang Z; He D; Pasaniuc B; Eskin E Bioinformatics; 2013 Sep; 29(18):2245-52. PubMed ID: 23825370 [TBL] [Abstract][Full Text] [Related]
10. ECNano: A cost-effective workflow for target enrichment sequencing and accurate variant calling on 4800 clinically significant genes using a single MinION flowcell. Leung AW; Leung HC; Wong CL; Zheng ZX; Lui WW; Luk HM; Lo IF; Luo R; Lam TW BMC Med Genomics; 2022 Mar; 15(1):43. PubMed ID: 35246132 [TBL] [Abstract][Full Text] [Related]
11. PRINCESS: comprehensive detection of haplotype resolved SNVs, SVs, and methylation. Mahmoud M; Doddapaneni H; Timp W; Sedlazeck FJ Genome Biol; 2021 Sep; 22(1):268. PubMed ID: 34521442 [TBL] [Abstract][Full Text] [Related]
12. A complete pipeline enables haplotyping and phasing macrohaplotype in long sequencing reads for polyploidy samples and a multi-source DNA mixture. Wang X; Muenzler M; King J; Liu M; Li H; Budowle B; Ge J Electrophoresis; 2024 May; 45(9-10):877-884. PubMed ID: 38196015 [TBL] [Abstract][Full Text] [Related]
13. Duet: SNP-assisted structural variant calling and phasing using Oxford nanopore sequencing. Zhou Y; Leung AW; Ahmed SS; Lam TW; Luo R BMC Bioinformatics; 2022 Nov; 23(1):465. PubMed ID: 36344913 [TBL] [Abstract][Full Text] [Related]
14. Integrating read-based and population-based phasing for dense and accurate haplotyping of individual genomes. Bansal V Bioinformatics; 2019 Jul; 35(14):i242-i248. PubMed ID: 31510646 [TBL] [Abstract][Full Text] [Related]
15. Haplotyping-Assisted Diploid Assembly and Variant Detection with Linked Reads. Hu Y; Yang C; Zhang L; Zhou X Methods Mol Biol; 2023; 2590():161-182. PubMed ID: 36335499 [TBL] [Abstract][Full Text] [Related]
16. A Comparison of Structural Variant Calling from Short-Read and Nanopore-Based Whole-Genome Sequencing Using Optical Genome Mapping as a Benchmark. Pei Y; Tanguy M; Giess A; Dixit A; Wilson LC; Gibbons RJ; Twigg SRF; Elgar G; Wilkie AOM Genes (Basel); 2024 Jul; 15(7):. PubMed ID: 39062704 [TBL] [Abstract][Full Text] [Related]
17. Longshot enables accurate variant calling in diploid genomes from single-molecule long read sequencing. Edge P; Bansal V Nat Commun; 2019 Oct; 10(1):4660. PubMed ID: 31604920 [TBL] [Abstract][Full Text] [Related]
18. Short and long-read genome sequencing methodologies for somatic variant detection; genomic analysis of a patient with diffuse large B-cell lymphoma. Roberts HE; Lopopolo M; Pagnamenta AT; Sharma E; Parkes D; Lonie L; Freeman C; Knight SJL; Lunter G; Dreau H; Lockstone H; Taylor JC; Schuh A; Bowden R; Buck D Sci Rep; 2021 Mar; 11(1):6408. PubMed ID: 33742045 [TBL] [Abstract][Full Text] [Related]
19. Accurate long-read sequencing allows assembly of the duplicated RHD and RHCE genes harboring variants relevant to blood transfusion. Zhang Z; An HH; Vege S; Hu T; Zhang S; Mosbruger T; Jayaraman P; Monos D; Westhoff CM; Chou ST Am J Hum Genet; 2022 Jan; 109(1):180-191. PubMed ID: 34968422 [TBL] [Abstract][Full Text] [Related]