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Deep sequencing of 10,000 human genomes.
Telenti A, Pierce LC, Biggs WH, di Iulio J, Wong EH, Fabani MM, Kirkness EF, Moustafa A, Shah N, Xie C, Brewerton SC, Bulsara N, Garner C, Metzker G, Sandoval E, Perkins BA, Och FJ, Turpaz Y, Venter JC. Telenti A, et al. Proc Natl Acad Sci U S A. 2016 Oct 18;113(42):11901-11906. doi: 10.1073/pnas.1613365113. Epub 2016 Oct 4. Proc Natl Acad Sci U S A. 2016. PMID: 27702888 Free PMC article.
Whole-genome sequencing identifies common-to-rare variants associated with human blood metabolites.
Long T, Hicks M, Yu HC, Biggs WH, Kirkness EF, Menni C, Zierer J, Small KS, Mangino M, Messier H, Brewerton S, Turpaz Y, Perkins BA, Evans AM, Miller LA, Guo L, Caskey CT, Schork NJ, Garner C, Spector TD, Venter JC, Telenti A. Long T, et al. Among authors: telenti a. Nat Genet. 2017 Apr;49(4):568-578. doi: 10.1038/ng.3809. Epub 2017 Mar 6. Nat Genet. 2017. PMID: 28263315
Human gene essentiality.
Bartha I, di Iulio J, Venter JC, Telenti A. Bartha I, et al. Among authors: telenti a. Nat Rev Genet. 2018 Jan;19(1):51-62. doi: 10.1038/nrg.2017.75. Epub 2017 Oct 30. Nat Rev Genet. 2018. PMID: 29082913 Review.
Profiling of Short-Tandem-Repeat Disease Alleles in 12,632 Human Whole Genomes.
Tang H, Kirkness EF, Lippert C, Biggs WH, Fabani M, Guzman E, Ramakrishnan S, Lavrenko V, Kakaradov B, Hou C, Hicks B, Heckerman D, Och FJ, Caskey CT, Venter JC, Telenti A. Tang H, et al. Among authors: telenti a. Am J Hum Genet. 2017 Nov 2;101(5):700-715. doi: 10.1016/j.ajhg.2017.09.013. Am J Hum Genet. 2017. PMID: 29100084 Free PMC article.
The human noncoding genome defined by genetic diversity.
di Iulio J, Bartha I, Wong EHM, Yu HC, Lavrenko V, Yang D, Jung I, Hicks MA, Shah N, Kirkness EF, Fabani MM, Biggs WH, Ren B, Venter JC, Telenti A. di Iulio J, et al. Among authors: telenti a. Nat Genet. 2018 Mar;50(3):333-337. doi: 10.1038/s41588-018-0062-7. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483654
Paternally inherited cis-regulatory structural variants are associated with autism.
Brandler WM, Antaki D, Gujral M, Kleiber ML, Whitney J, Maile MS, Hong O, Chapman TR, Tan S, Tandon P, Pang T, Tang SC, Vaux KK, Yang Y, Harrington E, Juul S, Turner DJ, Thiruvahindrapuram B, Kaur G, Wang Z, Kingsmore SF, Gleeson JG, Bisson D, Kakaradov B, Telenti A, Venter JC, Corominas R, Toma C, Cormand B, Rueda I, Guijarro S, Messer KS, Nievergelt CM, Arranz MJ, Courchesne E, Pierce K, Muotri AR, Iakoucheva LM, Hervas A, Scherer SW, Corsello C, Sebat J. Brandler WM, et al. Among authors: telenti a. Science. 2018 Apr 20;360(6386):327-331. doi: 10.1126/science.aan2261. Science. 2018. PMID: 29674594 Free PMC article.
A primer on deep learning in genomics.
Zou J, Huss M, Abid A, Mohammadi P, Torkamani A, Telenti A. Zou J, et al. Among authors: telenti a. Nat Genet. 2019 Jan;51(1):12-18. doi: 10.1038/s41588-018-0295-5. Epub 2018 Nov 26. Nat Genet. 2019. PMID: 30478442 Review.
Transcription Factor-Directed Re-wiring of Chromatin Architecture for Somatic Cell Nuclear Reprogramming toward trans-Differentiation.
Dall'Agnese A, Caputo L, Nicoletti C, di Iulio J, Schmitt A, Gatto S, Diao Y, Ye Z, Forcato M, Perera R, Bicciato S, Telenti A, Ren B, Puri PL. Dall'Agnese A, et al. Among authors: telenti a. Mol Cell. 2019 Nov 7;76(3):453-472.e8. doi: 10.1016/j.molcel.2019.07.036. Epub 2019 Sep 10. Mol Cell. 2019. PMID: 31519520 Free PMC article.
593 results