Jannovar: a java library for exome annotation - PubMed (original) (raw)

• Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.
  Schmidt A, Danyel M, Grundmann K, Brunet T, Klinkhammer H, Hsieh TC, Engels H, Peters S, Knaus A, Moosa S, Averdunk L, Boschann F, Sczakiel HL, Schwartzmann S, Mensah MA, Pantel JT, Holtgrewe M, Bösch A, Weiß C, Weinhold N, Suter AA, Stoltenburg C, Neugebauer J, Kallinich T, Kaindl AM, Holzhauer S, Bührer C, Bufler P, Kornak U, Ott CE, Schülke M, Nguyen HHP, Hoffjan S, Grasemann C, Rothoeft T, Brinkmann F, Matar N, Sivalingam S, Perne C, Mangold E, Kreiss M, Cremer K, Betz RC, Mücke M, Grigull L, Klockgether T, Spier I, Heimbach A, Bender T, Brand F, Stieber C, Morawiec AM, Karakostas P, Schäfer VS, Bernsen S, Weydt P, Castro-Gomez S, Aziz A, Grobe-Einsler M, Kimmich O, Kobeleva X, Önder D, Lesmann H, Kumar S, Tacik P, Basin MA, Incardona P, Lee-Kirsch MA, Berner R, Schuetz C, Körholz J, Kretschmer T, Di Donato N, Schröck E, Heinen A, Reuner U, Hanßke AM, Kaiser FJ, Manka E, Munteanu M, Kuechler A, Cordula K, Hirtz R, Schlapakow E, Schlein C, Lisfeld J, Kubisch C, Herget T, Hempel M, Weiler-Normann C, Ullrich K, Schramm C, Rudolph C, Rillig F, Groffmann M, Muntau A, Tibelius A, Schwaibold EMC, Schaaf CP, Zawada M, Kaufmann L, Hinderhofer K, Okun PM, Kotzaeridou U, Hoffmann GF, Cho… See abstract for full author list ➔ Schmidt A, et al. Nat Genet. 2024 Aug;56(8):1644-1653. doi: 10.1038/s41588-024-01836-1. Epub 2024 Jul 22. Nat Genet. 2024. PMID: 39039281 Free PMC article.
• Loss-of-function variants affecting the STAGA complex component SUPT7L cause a developmental disorder with generalized lipodystrophy.
  Kopp J, Koch LA, Lyubenova H, Küchler O, Holtgrewe M, Ivanov A, Dubourg C, Launay E, Brachs S, Mundlos S, Ehmke N, Seelow D, Fradin M, Kornak U, Fischer-Zirnsak B. Kopp J, et al. Hum Genet. 2024 May;143(5):683-694. doi: 10.1007/s00439-024-02669-y. Epub 2024 Apr 9. Hum Genet. 2024. PMID: 38592547 Free PMC article.
• GenomeMUSter mouse genetic variation service enables multitrait, multipopulation data integration and analysis.
  Ball RL, Bogue MA, Liang H, Srivastava A, Ashbrook DG, Lamoureux A, Gerring MW, Hatoum AS, Kim MJ, He H, Emerson J, Berger AK, Walton DO, Sheppard K, El Kassaby B, Castellanos F, Kunde-Ramamoorthy G, Lu L, Bluis J, Desai S, Sundberg BA, Peltz G, Fang Z, Churchill GA, Williams RW, Agrawal A, Bult CJ, Philip VM, Chesler EJ. Ball RL, et al. Genome Res. 2024 Feb 7;34(1):145-159. doi: 10.1101/gr.278157.123. Genome Res. 2024. PMID: 38290977 Free PMC article.
• Pancreatic cancer acquires resistance to MAPK pathway inhibition by clonal expansion and adaptive DNA hypermethylation.
  Godfrey LK, Forster J, Liffers ST, Schröder C, Köster J, Henschel L, Ludwig KU, Lähnemann D, Trajkovic-Arsic M, Behrens D, Scarpa A, Lawlor RT, Witzke KE, Sitek B, Johnsen SA, Rahmann S, Horsthemke B, Zeschnigk M, Siveke JT. Godfrey LK, et al. Clin Epigenetics. 2024 Jan 16;16(1):13. doi: 10.1186/s13148-024-01623-z. Clin Epigenetics. 2024. PMID: 38229153 Free PMC article.
• The Regulatory Mendelian Mutation score for GRCh38.
  Schubach M, Nazaretyan L, Kircher M. Schubach M, et al. Gigascience. 2022 Dec 28;12:giad024. doi: 10.1093/gigascience/giad024. Epub 2023 Apr 21. Gigascience. 2022. PMID: 37083939 Free PMC article.