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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: kirkness ef. Nat Genet. 2018 Mar;50(3):333-337. doi: 10.1038/s41588-018-0062-7. Epub 2018 Feb 26. Nat Genet. 2018. PMID: 29483654
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. Among authors: kirkness ef. 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: kirkness ef. Nat Genet. 2017 Apr;49(4):568-578. doi: 10.1038/ng.3809. Epub 2017 Mar 6. Nat Genet. 2017. PMID: 28263315
The blood DNA virome in 8,000 humans.
Moustafa A, Xie C, Kirkness E, Biggs W, Wong E, Turpaz Y, Bloom K, Delwart E, Nelson KE, Venter JC, Telenti A. Moustafa A, et al. PLoS Pathog. 2017 Mar 22;13(3):e1006292. doi: 10.1371/journal.ppat.1006292. eCollection 2017 Mar. PLoS Pathog. 2017. PMID: 28328962 Free PMC article.
Comparison of phasing strategies for whole human genomes.
Choi Y, Chan AP, Kirkness E, Telenti A, Schork NJ. Choi Y, et al. PLoS Genet. 2018 Apr 5;14(4):e1007308. doi: 10.1371/journal.pgen.1007308. eCollection 2018 Apr. PLoS Genet. 2018. PMID: 29621242 Free PMC article.
New Insights into the Genetic Basis of Monge's Disease and Adaptation to High-Altitude.
Stobdan T, Akbari A, Azad P, Zhou D, Poulsen O, Appenzeller O, Gonzales GF, Telenti A, Wong EHM, Saini S, Kirkness EF, Venter JC, Bafna V, Haddad GG. Stobdan T, et al. Among authors: kirkness ef. Mol Biol Evol. 2017 Dec 1;34(12):3154-3168. doi: 10.1093/molbev/msx239. Mol Biol Evol. 2017. PMID: 29029226 Free PMC article.
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: kirkness ef. 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.
Fast and accurate HLA typing from short-read next-generation sequence data with xHLA.
Xie C, Yeo ZX, Wong M, Piper J, Long T, Kirkness EF, Biggs WH, Bloom K, Spellman S, Vierra-Green C, Brady C, Scheuermann RH, Telenti A, Howard S, Brewerton S, Turpaz Y, Venter JC. Xie C, et al. Among authors: kirkness ef. Proc Natl Acad Sci U S A. 2017 Jul 25;114(30):8059-8064. doi: 10.1073/pnas.1707945114. Epub 2017 Jul 3. Proc Natl Acad Sci U S A. 2017. PMID: 28674023 Free PMC article.
Profound Perturbation of the Metabolome in Obesity Is Associated with Health Risk.
Cirulli ET, Guo L, Leon Swisher C, Shah N, Huang L, Napier LA, Kirkness EF, Spector TD, Caskey CT, Thorens B, Venter JC, Telenti A. Cirulli ET, et al. Among authors: kirkness ef. Cell Metab. 2019 Feb 5;29(2):488-500.e2. doi: 10.1016/j.cmet.2018.09.022. Epub 2018 Oct 11. Cell Metab. 2019. PMID: 30318341 Free PMC article.
125 results