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Nanopore sequencing and assembly of a human genome with ultra-long reads.
Jain M, Koren S, Miga KH, Quick J, Rand AC, Sasani TA, Tyson JR, Beggs AD, Dilthey AT, Fiddes IT, Malla S, Marriott H, Nieto T, O'Grady J, Olsen HE, Pedersen BS, Rhie A, Richardson H, Quinlan AR, Snutch TP, Tee L, Paten B, Phillippy AM, Simpson JT, Loman NJ, Loose M. Jain M, et al. Among authors: dilthey at. Nat Biotechnol. 2018 Apr;36(4):338-345. doi: 10.1038/nbt.4060. Epub 2018 Jan 29. Nat Biotechnol. 2018. PMID: 29431738 Free PMC article.
De novo assembly of haplotype-resolved genomes with trio binning.
Koren S, Rhie A, Walenz BP, Dilthey AT, Bickhart DM, Kingan SB, Hiendleder S, Williams JL, Smith TPL, Phillippy AM. Koren S, et al. Among authors: dilthey at. Nat Biotechnol. 2018 Oct 22:10.1038/nbt.4277. doi: 10.1038/nbt.4277. Online ahead of print. Nat Biotechnol. 2018. PMID: 30346939 Free PMC article.
HLA*LA-HLA typing from linearly projected graph alignments.
Dilthey AT, Mentzer AJ, Carapito R, Cutland C, Cereb N, Madhi SA, Rhie A, Koren S, Bahram S, McVean G, Phillippy AM. Dilthey AT, et al. Bioinformatics. 2019 Nov 1;35(21):4394-4396. doi: 10.1093/bioinformatics/btz235. Bioinformatics. 2019. PMID: 30942877 Free PMC article.
59 results