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Genomic characterization of the RH locus detects complex and novel structural variation in multi-ethnic cohorts.
Wheeler MM, Lannert KW, Huston H, Fletcher SN, Harris S, Teramura G, Maki HJ, Frazar C, Underwood JG, Shaffer T, Correa A, Delaney M, Reiner AP, Wilson JG, Nickerson DA, Johnsen JM; NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium. Wheeler MM, et al. Among authors: underwood jg. Genet Med. 2019 Feb;21(2):477-486. doi: 10.1038/s41436-018-0074-9. Epub 2018 Jun 29. Genet Med. 2019. PMID: 29955105 Free PMC article.
Autosomal-Dominant Multiple Pterygium Syndrome Is Caused by Mutations in MYH3.
Chong JX, Burrage LC, Beck AE, Marvin CT, McMillin MJ, Shively KM, Harrell TM, Buckingham KJ, Bacino CA, Jain M, Alanay Y, Berry SA, Carey JC, Gibbs RA, Lee BH, Krakow D, Shendure J, Nickerson DA; University of Washington Center for Mendelian Genomics; Bamshad MJ. Chong JX, et al. Am J Hum Genet. 2015 May 7;96(5):841-9. doi: 10.1016/j.ajhg.2015.04.004. Am J Hum Genet. 2015. PMID: 25957469 Free PMC article.
Multi-platform assessment of transcriptome profiling using RNA-seq in the ABRF next-generation sequencing study.
Li S, Tighe SW, Nicolet CM, Grove D, Levy S, Farmerie W, Viale A, Wright C, Schweitzer PA, Gao Y, Kim D, Boland J, Hicks B, Kim R, Chhangawala S, Jafari N, Raghavachari N, Gandara J, Garcia-Reyero N, Hendrickson C, Roberson D, Rosenfeld J, Smith T, Underwood JG, Wang M, Zumbo P, Baldwin DA, Grills GS, Mason CE. Li S, et al. Among authors: underwood jg. Nat Biotechnol. 2014 Sep;32(9):915-925. doi: 10.1038/nbt.2972. Epub 2014 Aug 24. Nat Biotechnol. 2014. PMID: 25150835 Free PMC article.
Comparative Annotation Toolkit (CAT)-simultaneous clade and personal genome annotation.
Fiddes IT, Armstrong J, Diekhans M, Nachtweide S, Kronenberg ZN, Underwood JG, Gordon D, Earl D, Keane T, Eichler EE, Haussler D, Stanke M, Paten B. Fiddes IT, et al. Among authors: underwood jg. Genome Res. 2018 Jul;28(7):1029-1038. doi: 10.1101/gr.233460.117. Epub 2018 Jun 8. Genome Res. 2018. PMID: 29884752 Free PMC article.
Robust single-cell discovery of RNA targets of RNA-binding proteins and ribosomes.
Brannan KW, Chaim IA, Marina RJ, Yee BA, Kofman ER, Lorenz DA, Jagannatha P, Dong KD, Madrigal AA, Underwood JG, Yeo GW. Brannan KW, et al. Among authors: underwood jg. Nat Methods. 2021 May;18(5):507-519. doi: 10.1038/s41592-021-01128-0. Epub 2021 May 7. Nat Methods. 2021. PMID: 33963355 Free PMC article.
Sequence diversity analyses of an improved rhesus macaque genome enhance its biomedical utility.
Warren WC, Harris RA, Haukness M, Fiddes IT, Murali SC, Fernandes J, Dishuck PC, Storer JM, Raveendran M, Hillier LW, Porubsky D, Mao Y, Gordon D, Vollger MR, Lewis AP, Munson KM, DeVogelaere E, Armstrong J, Diekhans M, Walker JA, Tomlinson C, Graves-Lindsay TA, Kremitzki M, Salama SR, Audano PA, Escalona M, Maurer NW, Antonacci F, Mercuri L, Maggiolini FAM, Catacchio CR, Underwood JG, O'Connor DH, Sanders AD, Korbel JO, Ferguson B, Kubisch HM, Picker L, Kalin NH, Rosene D, Levine J, Abbott DH, Gray SB, Sanchez MM, Kovacs-Balint ZA, Kemnitz JW, Thomasy SM, Roberts JA, Kinnally EL, Capitanio JP, Skene JHP, Platt M, Cole SA, Green RE, Ventura M, Wiseman RW, Paten B, Batzer MA, Rogers J, Eichler EE. Warren WC, et al. Among authors: underwood jg. Science. 2020 Dec 18;370(6523):eabc6617. doi: 10.1126/science.abc6617. Science. 2020. PMID: 33335035 Free PMC article.
Characterization of the human ESC transcriptome by hybrid sequencing.
Au KF, Sebastiano V, Afshar PT, Durruthy JD, Lee L, Williams BA, van Bakel H, Schadt EE, Reijo-Pera RA, Underwood JG, Wong WH. Au KF, et al. Among authors: underwood jg. Proc Natl Acad Sci U S A. 2013 Dec 10;110(50):E4821-30. doi: 10.1073/pnas.1320101110. Epub 2013 Nov 26. Proc Natl Acad Sci U S A. 2013. PMID: 24282307 Free PMC article.
71 results