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Targeted long-read sequencing identifies missing disease-causing variation

Miller DE, Sulovari A, Wang T, Loucks H, Hoekzema K, Munson KM, Lewis AP, Fuerte EPA, Paschal CR, Walsh T, Thies J, Bennett JT, Glass I, Dipple KM, Patterson K, Bonkowski ES, Nelson Z, Squire A, Sikes M, Beckman E, Bennett RL, Earl D, Lee W, Alikmets R, Perlman SJ, Chow P, Hing AV, Wenger TL, Adam MP, Sun A, Lam C, Chang I, Zou X, Austin SL, Huggins E, Safi A, Iyengar AK, Reddy TE, Majoros WH, Allen AS, Crawford GE, Kishnani PS, University of Washington for Mendelian Genomics, King MC, Cherry T, Chong J, Bamshad MJ, Nickerson DA, Mefford HC, Doherty D, Eichler EE. (2021). Targeted long-read sequencing identifies missing disease-causing variation. AJHG Aug 5;108(8):1436-1449.

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