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Advancing long-read nanopore genome assembly and accurate variant calling for rare disease detection.
Negi S, Stenton SL, Berger SI, McNulty B, Violich I, Gardner J, Hillaker T, O'Rourke SM, O'Leary MC, Carbonell E, Austin-Tse C, Lemire G, Serrano J, Mangilog B, VanNoy G, Kolmogorov M, Vilain E, O'Donnell-Luria A, Délot E, Miga KH, Monlong J, Paten B. Negi S, et al. Among authors: miga kh. medRxiv [Preprint]. 2024 Aug 22:2024.08.22.24312327. doi: 10.1101/2024.08.22.24312327. medRxiv. 2024. PMID: 39228712 Free PMC article. Preprint.
The Need for a Human Pangenome Reference Sequence.
Miga KH, Wang T. Miga KH, et al. Annu Rev Genomics Hum Genet. 2021 Aug 31;22:81-102. doi: 10.1146/annurev-genom-120120-081921. Epub 2021 Apr 30. Annu Rev Genomics Hum Genet. 2021. PMID: 33929893 Free PMC article. Review.
Human Artificial Chromosomes that Bypass Centromeric DNA.
Logsdon GA, Gambogi CW, Liskovykh MA, Barrey EJ, Larionov V, Miga KH, Heun P, Black BE. Logsdon GA, et al. Among authors: miga kh. Cell. 2019 Jul 25;178(3):624-639.e19. doi: 10.1016/j.cell.2019.06.006. Cell. 2019. PMID: 31348889 Free PMC article.
From telomere to telomere: The transcriptional and epigenetic state of human repeat elements.
Hoyt SJ, Storer JM, Hartley GA, Grady PGS, Gershman A, de Lima LG, Limouse C, Halabian R, Wojenski L, Rodriguez M, Altemose N, Rhie A, Core LJ, Gerton JL, Makalowski W, Olson D, Rosen J, Smit AFA, Straight AF, Vollger MR, Wheeler TJ, Schatz MC, Eichler EE, Phillippy AM, Timp W, Miga KH, O'Neill RJ. Hoyt SJ, et al. Among authors: miga kh. Science. 2022 Apr;376(6588):eabk3112. doi: 10.1126/science.abk3112. Epub 2022 Apr 1. Science. 2022. PMID: 35357925 Free PMC article.
From complete genomes to pangenomes.
Miga KH. Miga KH. Am J Hum Genet. 2024 Jul 11;111(7):1265-1268. doi: 10.1016/j.ajhg.2024.05.012. Am J Hum Genet. 2024. PMID: 38996470 Free PMC article.
Heterochromatin-Encoded Satellite RNAs Induce Breast Cancer.
Zhu Q, Hoong N, Aslanian A, Hara T, Benner C, Heinz S, Miga KH, Ke E, Verma S, Soroczynski J, Yates JR 3rd, Hunter T, Verma IM. Zhu Q, et al. Among authors: miga kh. Mol Cell. 2018 Jun 7;70(5):842-853.e7. doi: 10.1016/j.molcel.2018.04.023. Epub 2018 May 31. Mol Cell. 2018. PMID: 29861157 Free PMC article.
80 results