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The barcode, UMI, set format and BUStools.
Melsted P, Ntranos V, Pachter L. Melsted P, et al. Bioinformatics. 2019 Nov 1;35(21):4472-4473. doi: 10.1093/bioinformatics/btz279. Bioinformatics. 2019. PMID: 31073610
Start codon variant in LAG3 is associated with decreased LAG-3 expression and increased risk of autoimmune thyroid disease.
Saevarsdottir S, Bjarnadottir K, Markusson T, Berglund J, Olafsdottir TA, Halldorsson GH, Rutsdottir G, Gunnarsdottir K, Arnthorsson AO, Lund SH, Stefansdottir L, Gudmundsson J, Johannesson AJ, Sturluson A, Oddsson A, Halldorsson B, Ludviksson BR, Ferkingstad E, Ivarsdottir EV, Sveinbjornsson G, Grondal G, Masson G, Eldjarn GH, Thorisson GA, Kristjansdottir K, Knowlton KU, Moore KHS, Gudjonsson SA, Rognvaldsson S, Knight S, Nadauld LD, Holm H, Magnusson OT, Sulem P, Gudbjartsson DF, Rafnar T, Thorleifsson G, Melsted P, Norddahl GL, Jonsdottir I, Stefansson K. Saevarsdottir S, et al. Among authors: melsted p. Nat Commun. 2024 Jul 9;15(1):5748. doi: 10.1038/s41467-024-50007-7. Nat Commun. 2024. PMID: 38982041 Free PMC article.
Deficit of homozygosity among 1.52 million individuals and genetic causes of recessive lethality.
Oddsson A, Sulem P, Sveinbjornsson G, Arnadottir GA, Steinthorsdottir V, Halldorsson GH, Atlason BA, Oskarsson GR, Helgason H, Nielsen HS, Westergaard D, Karjalainen JM, Katrinardottir H, Fridriksdottir R, Jensson BO, Tragante V, Ferkingstad E, Jonsson H, Gudjonsson SA, Beyter D, Moore KHS, Thordardottir HB, Kristmundsdottir S, Stefansson OA, Rantapää-Dahlqvist S, Sonderby IE, Didriksen M, Stridh P, Haavik J, Tryggvadottir L, Frei O, Walters GB, Kockum I, Hjalgrim H, Olafsdottir TA, Selbaek G, Nyegaard M, Erikstrup C, Brodersen T, Saevarsdottir S, Olsson T, Nielsen KR, Haraldsson A, Bruun MT, Hansen TF; DBDS Genomic Consortium; Steingrimsdottir T, Jacobsen RL, Lie RT, Djurovic S, Alfredsson L, Lopez de Lapuente Portilla A, Brunak S, Melsted P, Halldorsson BV, Saemundsdottir J, Magnusson OT, Padyukov L, Banasik K, Rafnar T, Askling J, Klareskog L, Pedersen OB, Masson G, Havdahl A, Nilsson B, Andreassen OA, Daly M, Ostrowski SR, Jonsdottir I, Stefansson H, Holm H, Helgason A, Thorsteinsdottir U, Stefansson K, Gudbjartsson DF. Oddsson A, et al. Among authors: melsted p. Nat Commun. 2023 Jun 10;14(1):3453. doi: 10.1038/s41467-023-38951-2. Nat Commun. 2023. PMID: 37301908 Free PMC article.
Near-optimal probabilistic RNA-seq quantification.
Bray NL, Pimentel H, Melsted P, Pachter L. Bray NL, et al. Among authors: melsted p. Nat Biotechnol. 2016 May;34(5):525-7. doi: 10.1038/nbt.3519. Epub 2016 Apr 4. Nat Biotechnol. 2016. PMID: 27043002
Erratum: Near-optimal probabilistic RNA-seq quantification.
Bray NL, Pimentel H, Melsted P, Pachter L. Bray NL, et al. Among authors: melsted p. Nat Biotechnol. 2016 Aug 9;34(8):888. doi: 10.1038/nbt0816-888d. Nat Biotechnol. 2016. PMID: 27504780 No abstract available.
64 results