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A comprehensive benchmarking of WGS-based deletion structural variant callers.
Sarwal V, Niehus S, Ayyala R, Kim M, Sarkar A, Chang S, Lu A, Rajkumar N, Darfci-Maher N, Littman R, Chhugani K, Soylev A, Comarova Z, Wesel E, Castellanos J, Chikka R, Distler MG, Eskin E, Flint J, Mangul S. Sarwal V, et al. Among authors: niehus s. Brief Bioinform. 2022 Jul 18;23(4):bbac221. doi: 10.1093/bib/bbac221. Brief Bioinform. 2022. PMID: 35753701 Free PMC article.
Lifelong Reduction in LDL (Low-Density Lipoprotein) Cholesterol due to a Gain-of-Function Mutation in LDLR.
Bjornsson E, Gunnarsdottir K, Halldorsson GH, Sigurdsson A, Arnadottir GA, Jonsson H, Olafsdottir EF, Niehus S, Kehr B, Sveinbjörnsson G, Gudmundsdottir S, Helgadottir A, Andersen K, Thorleifsson G, Eyjolfsson GI, Olafsson I, Sigurdardottir O, Saemundsdottir J, Jonsdottir I, Magnusson OT, Masson G, Stefansson H, Gudbjartsson DF, Thorgeirsson G, Holm H, Halldorsson BV, Melsted P, Norddahl GL, Sulem P, Thorsteinsdottir U, Stefansson K. Bjornsson E, et al. Among authors: niehus s. Circ Genom Precis Med. 2021 Feb;14(1):e003029. doi: 10.1161/CIRCGEN.120.003029. Epub 2020 Dec 14. Circ Genom Precis Med. 2021. PMID: 33315477
Draft Genome Sequence of Tubulinosema ratisbonensis, a Microsporidian Species Infecting the Model Organism Drosophila melanogaster.
Polonais V, Niehus S, Wawrzyniak I, Franchet A, Gaspin C, Belkorchia A, Reichstadt M, Belser C, Labadie K, Couloux A, Delbac F, Peyretaillade E, Ferrandon D. Polonais V, et al. Among authors: niehus s. Microbiol Resour Announc. 2019 Aug 1;8(31):e00077-19. doi: 10.1128/MRA.00077-19. Microbiol Resour Announc. 2019. PMID: 31371528 Free PMC article.
21 results