Below are the most recent publications written about "Whole Genome Sequencing" by people in Profiles.
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McElroy A, Gray-Edwards H, Coghill LM, Lyons LA. Precision medicine using whole genome sequencing in a cat identifies a novel COL5A1 variant for classical Ehlers-Danlos syndrome. J Vet Intern Med. 2023 Sep-Oct; 37(5):1716-1724.
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Fuentes Bolanos NA, Padhye B, Daley M, Hunter J, Hetherington K, Warby M, Courtney E, Kirk J, Josephi-Taylor S, Chen Y, Alvaro F, Barlow-Stewart K, Wong-Erasmus M, Barahona P, Ajuyah P, Altekoester AK, Tyrrell VJ, Lau LMS, Wakefield C, Sylvester D, Tucker K, Pinese M, Dalla Pozza L, O'Brien TA. Protocol for a comprehensive prospective cohort study of trio-based whole-genome sequencing for underlying cancer predisposition in paediatric and adolescent patients newly diagnosed with cancer: the PREDICT study. BMJ Open. 2023 05 30; 13(5):e070082.
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Flerlage JE, Myers JR, Maciaszek JL, Oak N, Rashkin SR, Hui Y, Wang YD, Chen W, Wu G, Chang TC, Hamilton K, Tithi SS, Goldin LR, Rotunno M, Caporaso N, Vogt A, Flamish D, Wyatt K, Liu J, Tucker M, Hahn CN, Brown AL, Scott HS, Mullighan C, Nichols KE, Metzger ML, McMaster ML, Yang JJ, Rampersaud E. Discovery of novel predisposing coding and noncoding variants in familial Hodgkin lymphoma. Blood. 2023 03 16; 141(11):1293-1307.
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Mave V, Chen L, Ranganathan UD, Kadam D, Vishwanathan V, Lokhande R, S SK, Kagal A, Pradhan NN, Shivakumar SVBY, Paradkar MS, Deshmukh S, Tornheim JA, Kornfeld H, Farhat M, Gupta A, Padmapriyadarsini C, Gupte N, Golub JE, Mathema B, Kreiswirth BN. Whole Genome Sequencing Assessing Impact of Diabetes Mellitus on Tuberculosis Mutations and Type of Recurrence in India. Clin Infect Dis. 2022 09 14; 75(5):768-776.
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Miller MB, Huang AY, Kim J, Zhou Z, Kirkham SL, Maury EA, Ziegenfuss JS, Reed HC, Neil JE, Rento L, Ryu SC, Ma CC, Luquette LJ, Ames HM, Oakley DH, Frosch MP, Hyman BT, Lodato MA, Lee EA, Walsh CA. Somatic genomic changes in single Alzheimer's disease neurons. Nature. 2022 04; 604(7907):714-722.
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Tessema SK, Hathaway NJ, Teyssier NB, Murphy M, Chen A, Aydemir O, Duarte EM, Simone W, Colborn J, Saute F, Crawford E, Aide P, Bailey JA, Greenhouse B. Sensitive, Highly Multiplexed Sequencing of Microhaplotypes From the Plasmodium falciparum Heterozygome. J Infect Dis. 2022 04 01; 225(7):1227-1237.
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Siddle KJ, Krasilnikova LA, Moreno GK, Schaffner SF, Vostok J, Fitzgerald NA, Lemieux JE, Barkas N, Loreth C, Specht I, Tomkins-Tinch CH, Paull JS, Schaeffer B, Taylor BP, Loftness B, Johnson H, Schubert PL, Shephard HM, Doucette M, Fink T, Lang AS, Baez S, Beauchamp J, Hennigan S, Buzby E, Ash S, Brown J, Clancy S, Cofsky S, Gagne L, Hall J, Harrington R, Gionet GL, DeRuff KC, Vodzak ME, Adams GC, Dobbins ST, Slack SD, Reilly SK, Anderson LM, Cipicchio MC, DeFelice MT, Grimsby JL, Anderson SE, Blumenstiel BS, Meldrim JC, Rooke HM, Vicente G, Smith NL, Messer KS, Reagan FL, Mandese ZM, Lee MD, Ray MC, Fisher ME, Ulcena MA, Nolet CM, English SE, Larkin KL, Vernest K, Chaluvadi S, Arvidson D, Melchiono M, Covell T, Harik V, Brock-Fisher T, Dunn M, Kearns A, Hanage WP, Bernard C, Philippakis A, Lennon NJ, Gabriel SB, Gallagher GR, Smole S, Madoff LC, Brown CM, Park DJ, MacInnis BL, Sabeti PC. Transmission from vaccinated individuals in a large SARS-CoV-2 Delta variant outbreak. Cell. 2022 02 03; 185(3):485-492.e10.
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Hu Y, Haessler JW, Manansala R, Wiggins KL, Moscati A, Beiser A, Heard-Costa NL, Sarnowski C, Raffield LM, Chung J, Marini S, Anderson CD, Rosand J, Xu H, Sun X, Kelly TN, Wong Q, Lange LA, Rotter JI, Correa A, Vasan RS, Seshadri S, Rich SS, Do R, Loos RJF, Longstreth WT, Bis JC, Psaty BM, Tirschwell DL, Assimes TL, Silver B, Liu S, Jackson R, Wassertheil-Smoller S, Mitchell BD, Fornage M, Auer PL, Reiner AP, Kooperberg C. Whole-Genome Sequencing Association Analyses of Stroke and Its Subtypes in Ancestrally Diverse Populations From Trans-Omics for Precision Medicine Project. Stroke. 2022 03; 53(3):875-885.
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Schlingmann KP, Jouret F, Shen K, Nigam A, Arjona FJ, Dafinger C, Houillier P, Jones DP, Kleiner?schkamp F, Oh J, Godefroid N, Eltan M, G?ran T, Burtey S, Parotte MC, K?nig J, Braun A, Bos C, Ibars Serra M, Rehmann H, Zwartkruis FJT, Renkema KY, Klingel K, Schulze-Bahr E, Schermer B, Bergmann C, Altm?ller J, Thiele H, Beck BB, Dahan K, Sabatini D, Liebau MC, Vargas-Poussou R, Knoers NVAM, Konrad M, de Baaij JHF. mTOR-Activating Mutations in RRAGD Are Causative for Kidney Tubulopathy and Cardiomyopathy. J Am Soc Nephrol. 2021 11; 32(11):2885-2899.
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Rubin LG, Beachy J, Matz T, Balamohan A, Jendresky L, Zembera J, Annavajhala MK, Uhlemann AC. Prolonged outbreak of clonal, mupirocin-resistant methicillin-resistant Staphylococcus aureus in a neonatal intensive care unit: association with personnel and a possible environmental reservoir, analyzed using whole genome sequencing. Am J Infect Control. 2022 06; 50(6):680-685.