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Evaluation of serverless computing for scalable execution of a joint variant calling workflow.
PLoS One. 2021 Jul 9;16(7):e0254363. doi: 10.1371/journal.pone.0254363. eCollection 2021.
PLoS One. 2021.
PMID: 34242357
Free PMC article.
Variant Classification Concordance using the ACMG-AMP Variant Interpretation Guidelines across Nine Genomic Implementation Research Studies.
Amendola LM, Muenzen K, Biesecker LG, Bowling KM, Cooper GM, Dorschner MO, Driscoll C, Foreman AKM, Golden-Grant K, Greally JM, Hindorff L, Kanavy D, Jobanputra V, Johnston JJ, Kenny EE, McNulty S, Murali P, Ou J, Powell BC, Rehm HL, Rolf B, Roman TS, Van Ziffle J, Guha S, Abhyankar A, Crosslin D, Venner E, Yuan B, Zouk H; CSER Sequencing and Diagnostic Yield working group; Jarvik GP.
Amendola LM, et al. Among authors: muenzen k.
Am J Hum Genet. 2020 Nov 5;107(5):932-941. doi: 10.1016/j.ajhg.2020.09.011. Epub 2020 Oct 26.
Am J Hum Genet. 2020.
PMID: 33108757
Free PMC article.
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Lessons learned and recommendations for data coordination in collaborative research: The CSER consortium experience.
Muenzen KD, Amendola LM, Kauffman TL, Mittendorf KF, Bensen JT, Chen F, Green R, Powell BC, Kvale M, Angelo F, Farnan L, Fullerton SM, Robinson JO, Li T, Murali P, Lawlor JMJ, Ou J, Hindorff LA, Jarvik GP, Crosslin DR.
Muenzen KD, et al.
HGG Adv. 2022 May 20;3(3):100120. doi: 10.1016/j.xhgg.2022.100120. eCollection 2022 Jul 14.
HGG Adv. 2022.
PMID: 35707062
Free PMC article.
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Evolution of the Highly Repetitive PEVK Region of Titin Across Mammals.
Muenzen K, Monroy J, Finseth FR.
Muenzen K, et al.
G3 (Bethesda). 2019 Apr 9;9(4):1103-1115. doi: 10.1534/g3.118.200714.
G3 (Bethesda). 2019.
PMID: 30804022
Free PMC article.
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A certified de-identification system for all clinical text documents for information extraction at scale.
Radhakrishnan L, Schenk G, Muenzen K, Oskotsky B, Ashouri Choshali H, Plunkett T, Israni S, Butte AJ.
Radhakrishnan L, et al. Among authors: muenzen k.
JAMIA Open. 2023 Jul 4;6(3):ooad045. doi: 10.1093/jamiaopen/ooad045. eCollection 2023 Oct.
JAMIA Open. 2023.
PMID: 37416449
Free PMC article.
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Returning integrated genomic risk and clinical recommendations: The eMERGE study.
Linder JE, Allworth A, Bland HT, Caraballo PJ, Chisholm RL, Clayton EW, Crosslin DR, Dikilitas O, DiVietro A, Esplin ED, Forman S, Freimuth RR, Gordon AS, Green R, Harden MV, Holm IA, Jarvik GP, Karlson EW, Labrecque S, Lennon NJ, Limdi NA, Mittendorf KF, Murphy SN, Orlando L, Prows CA, Rasmussen LV, Rasmussen-Torvik L, Rowley R, Sawicki KT, Schmidlen T, Terek S, Veenstra D, Velez Edwards DR, Absher D, Abul-Husn NS, Alsip J, Bangash H, Beasley M, Below JE, Berner ES, Booth J, Chung WK, Cimino JJ, Connolly J, Davis P, Devine B, Fullerton SM, Guiducci C, Habrat ML, Hain H, Hakonarson H, Harr M, Haverfield E, Hernandez V, Hoell C, Horike-Pyne M, Hripcsak G, Irvin MR, Kachulis C, Karavite D, Kenny EE, Khan A, Kiryluk K, Korf B, Kottyan L, Kullo IJ, Larkin K, Liu C, Malolepsza E, Manolio TA, May T, McNally EM, Mentch F, Miller A, Mooney SD, Murali P, Mutai B, Muthu N, Namjou B, Perez EF, Puckelwartz MJ, Rakhra-Burris T, Roden DM, Rosenthal EA, Saadatagah S, Sabatello M, Schaid DJ, Schultz B, Seabolt L, Shaibi GQ, Sharp RR, Shirts B, Smith ME, Smoller JW, Sterling R, Suckiel SA, Thayer J, Tiwari HK, Trinidad SB, Walunas T, Wei WQ, Wells QS, Weng C, Wiesner GL, Wiley K; eMERGE Consortium…
See abstract for full author list ➔
Linder JE, et al.
Genet Med. 2023 Apr;25(4):100006. doi: 10.1016/j.gim.2023.100006. Epub 2023 Jan 6.
Genet Med. 2023.
PMID: 36621880
Free PMC article.
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Protected Health Information filter (Philter): accurately and securely de-identifying free-text clinical notes.
Norgeot B, Muenzen K, Peterson TA, Fan X, Glicksberg BS, Schenk G, Rutenberg E, Oskotsky B, Sirota M, Yazdany J, Schmajuk G, Ludwig D, Goldstein T, Butte AJ.
Norgeot B, et al. Among authors: muenzen k.
NPJ Digit Med. 2020 Apr 14;3:57. doi: 10.1038/s41746-020-0258-y. eCollection 2020.
NPJ Digit Med. 2020.
PMID: 32337372
Free PMC article.
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