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Atlas-CNV: a validated approach to call single-exon CNVs in the eMERGESeq gene panel.
Chiang T, Liu X, Wu TJ, Hu J, Sedlazeck FJ, White S, Schaid D, Andrade M, Jarvik GP, Crosslin D, Stanaway I, Carrell DS, Connolly JJ, Hakonarson H, Groopman EE, Gharavi AG, Fedotov A, Bi W, Leduc MS, Murdock DR, Jiang Y, Meng L, Eng CM, Wen S, Yang Y, Muzny DM, Boerwinkle E, Salerno W, Venner E, Gibbs RA. Chiang T, et al. Among authors: liu x. Genet Med. 2019 Sep;21(9):2135-2144. doi: 10.1038/s41436-019-0475-4. Epub 2019 Mar 20. Genet Med. 2019. PMID: 30890783 Free PMC article.
Neptune: an environment for the delivery of genomic medicine.
Eric V, Yi V, Murdock D, Kalla SE, Wu TJ, Sabo A, Li S, Meng Q, Tian X, Murugan M, Cohen M, Kovar C, Wei WQ, Chung WK, Weng C, Wiesner GL, Jarvik GP, Muzny D, Gibbs RA; eMERGE Consortium. Eric V, et al. Genet Med. 2021 Oct;23(10):1838-1846. doi: 10.1038/s41436-021-01230-w. Epub 2021 Jul 13. Genet Med. 2021. PMID: 34257418 Free PMC article.
A rare missense variant of CASP7 is associated with familial late-onset Alzheimer's disease.
Zhang X, Zhu C, Beecham G, Vardarajan BN, Ma Y, Lancour D, Farrell JJ, Chung J; Alzheimer's Disease Sequencing Project; Mayeux R, Haines JL, Schellenberg GD, Pericak-Vance MA, Lunetta KL, Farrer LA. Zhang X, et al. Alzheimers Dement. 2019 Mar;15(3):441-452. doi: 10.1016/j.jalz.2018.10.005. Epub 2019 Jan 3. Alzheimers Dement. 2019. PMID: 30503768 Free PMC article.
Oncogenic Signaling Pathways in The Cancer Genome Atlas.
Sanchez-Vega F, Mina M, Armenia J, Chatila WK, Luna A, La KC, Dimitriadoy S, Liu DL, Kantheti HS, Saghafinia S, Chakravarty D, Daian F, Gao Q, Bailey MH, Liang WW, Foltz SM, Shmulevich I, Ding L, Heins Z, Ochoa A, Gross B, Gao J, Zhang H, Kundra R, Kandoth C, Bahceci I, Dervishi L, Dogrusoz U, Zhou W, Shen H, Laird PW, Way GP, Greene CS, Liang H, Xiao Y, Wang C, Iavarone A, Berger AH, Bivona TG, Lazar AJ, Hammer GD, Giordano T, Kwong LN, McArthur G, Huang C, Tward AD, Frederick MJ, McCormick F, Meyerson M; Cancer Genome Atlas Research Network; Van Allen EM, Cherniack AD, Ciriello G, Sander C, Schultz N. Sanchez-Vega F, et al. Cell. 2018 Apr 5;173(2):321-337.e10. doi: 10.1016/j.cell.2018.03.035. Cell. 2018. PMID: 29625050 Free PMC article.
The Cancer Genome Atlas Comprehensive Molecular Characterization of Renal Cell Carcinoma.
Ricketts CJ, De Cubas AA, Fan H, Smith CC, Lang M, Reznik E, Bowlby R, Gibb EA, Akbani R, Beroukhim R, Bottaro DP, Choueiri TK, Gibbs RA, Godwin AK, Haake S, Hakimi AA, Henske EP, Hsieh JJ, Ho TH, Kanchi RS, Krishnan B, Kwiatkowski DJ, Liu W, Merino MJ, Mills GB, Myers J, Nickerson ML, Reuter VE, Schmidt LS, Shelley CS, Shen H, Shuch B, Signoretti S, Srinivasan R, Tamboli P, Thomas G, Vincent BG, Vocke CD, Wheeler DA, Yang L, Kim WY, Robertson AG; Cancer Genome Atlas Research Network; Spellman PT, Rathmell WK, Linehan WM. Ricketts CJ, et al. Cell Rep. 2018 Apr 3;23(1):313-326.e5. doi: 10.1016/j.celrep.2018.03.075. Cell Rep. 2018. PMID: 29617669 Free PMC article.
Genomic, Pathway Network, and Immunologic Features Distinguishing Squamous Carcinomas.
Campbell JD, Yau C, Bowlby R, Liu Y, Brennan K, Fan H, Taylor AM, Wang C, Walter V, Akbani R, Byers LA, Creighton CJ, Coarfa C, Shih J, Cherniack AD, Gevaert O, Prunello M, Shen H, Anur P, Chen J, Cheng H, Hayes DN, Bullman S, Pedamallu CS, Ojesina AI, Sadeghi S, Mungall KL, Robertson AG, Benz C, Schultz A, Kanchi RS, Gay CM, Hegde A, Diao L, Wang J, Ma W, Sumazin P, Chiu HS, Chen TW, Gunaratne P, Donehower L, Rader JS, Zuna R, Al-Ahmadie H, Lazar AJ, Flores ER, Tsai KY, Zhou JH, Rustgi AK, Drill E, Shen R, Wong CK; Cancer Genome Atlas Research Network; Stuart JM, Laird PW, Hoadley KA, Weinstein JN, Peto M, Pickering CR, Chen Z, Van Waes C. Campbell JD, et al. Cell Rep. 2018 Apr 3;23(1):194-212.e6. doi: 10.1016/j.celrep.2018.03.063. Cell Rep. 2018. PMID: 29617660 Free PMC article.
Integrated Genomic Analysis of the Ubiquitin Pathway across Cancer Types.
Ge Z, Leighton JS, Wang Y, Peng X, Chen Z, Chen H, Sun Y, Yao F, Li J, Zhang H, Liu J, Shriver CD, Hu H; Cancer Genome Atlas Research Network; Piwnica-Worms H, Ma L, Liang H. Ge Z, et al. Among authors: liu j. Cell Rep. 2018 Apr 3;23(1):213-226.e3. doi: 10.1016/j.celrep.2018.03.047. Cell Rep. 2018. PMID: 29617661 Free PMC article.
Comparative Molecular Analysis of Gastrointestinal Adenocarcinomas.
Liu Y, Sethi NS, Hinoue T, Schneider BG, Cherniack AD, Sanchez-Vega F, Seoane JA, Farshidfar F, Bowlby R, Islam M, Kim J, Chatila W, Akbani R, Kanchi RS, Rabkin CS, Willis JE, Wang KK, McCall SJ, Mishra L, Ojesina AI, Bullman S, Pedamallu CS, Lazar AJ, Sakai R; Cancer Genome Atlas Research Network; Thorsson V, Bass AJ, Laird PW. Liu Y, et al. Cancer Cell. 2018 Apr 9;33(4):721-735.e8. doi: 10.1016/j.ccell.2018.03.010. Epub 2018 Apr 2. Cancer Cell. 2018. PMID: 29622466 Free PMC article.
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