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Page 1
Alpha Satellite Insertion Close to an Ancestral Centromeric Region.
Giannuzzi G, Logsdon GA, Chatron N, Miller DE, Reversat J, Munson KM, Hoekzema K, Bonnet-Dupeyron MN, Rollat-Farnier PA, Baker CA, Sanlaville D, Eichler EE, Schluth-Bolard C, Reymond A. Giannuzzi G, et al. Among authors: baker ca. Mol Biol Evol. 2021 Dec 9;38(12):5576-5587. doi: 10.1093/molbev/msab244. Mol Biol Evol. 2021. PMID: 34464971 Free PMC article.
The structure, function and evolution of a complete human chromosome 8.
Logsdon GA, Vollger MR, Hsieh P, Mao Y, Liskovykh MA, Koren S, Nurk S, Mercuri L, Dishuck PC, Rhie A, de Lima LG, Dvorkina T, Porubsky D, Harvey WT, Mikheenko A, Bzikadze AV, Kremitzki M, Graves-Lindsay TA, Jain C, Hoekzema K, Murali SC, Munson KM, Baker C, Sorensen M, Lewis AM, Surti U, Gerton JL, Larionov V, Ventura M, Miga KH, Phillippy AM, Eichler EE. Logsdon GA, et al. Nature. 2021 May;593(7857):101-107. doi: 10.1038/s41586-021-03420-7. Epub 2021 Apr 7. Nature. 2021. PMID: 33828295 Free PMC article.
Improved assembly and variant detection of a haploid human genome using single-molecule, high-fidelity long reads.
Vollger MR, Logsdon GA, Audano PA, Sulovari A, Porubsky D, Peluso P, Wenger AM, Concepcion GT, Kronenberg ZN, Munson KM, Baker C, Sanders AD, Spierings DCJ, Lansdorp PM, Surti U, Hunkapiller MW, Eichler EE. Vollger MR, et al. Ann Hum Genet. 2020 Mar;84(2):125-140. doi: 10.1111/ahg.12364. Epub 2019 Nov 11. Ann Hum Genet. 2020. PMID: 31711268 Free PMC article.
Interchromosomal core duplicons drive both evolutionary instability and disease susceptibility of the Chromosome 8p23.1 region.
Mohajeri K, Cantsilieris S, Huddleston J, Nelson BJ, Coe BP, Campbell CD, Baker C, Harshman L, Munson KM, Kronenberg ZN, Kremitzki M, Raja A, Catacchio CR, Graves TA, Wilson RK, Ventura M, Eichler EE. Mohajeri K, et al. Genome Res. 2016 Nov;26(11):1453-1467. doi: 10.1101/gr.211284.116. Epub 2016 Oct 7. Genome Res. 2016. PMID: 27803192 Free PMC article.
High-resolution comparative analysis of great ape genomes.
Kronenberg ZN, Fiddes IT, Gordon D, Murali S, Cantsilieris S, Meyerson OS, Underwood JG, Nelson BJ, Chaisson MJP, Dougherty ML, Munson KM, Hastie AR, Diekhans M, Hormozdiari F, Lorusso N, Hoekzema K, Qiu R, Clark K, Raja A, Welch AE, Sorensen M, Baker C, Fulton RS, Armstrong J, Graves-Lindsay TA, Denli AM, Hoppe ER, Hsieh P, Hill CM, Pang AWC, Lee J, Lam ET, Dutcher SK, Gage FH, Warren WC, Shendure J, Haussler D, Schneider VA, Cao H, Ventura M, Wilson RK, Paten B, Pollen A, Eichler EE. Kronenberg ZN, et al. Science. 2018 Jun 8;360(6393):eaar6343. doi: 10.1126/science.aar6343. Science. 2018. PMID: 29880660 Free PMC article.
Adaptive archaic introgression of copy number variants and the discovery of previously unknown human genes.
Hsieh P, Vollger MR, Dang V, Porubsky D, Baker C, Cantsilieris S, Hoekzema K, Lewis AP, Munson KM, Sorensen M, Kronenberg ZN, Murali S, Nelson BJ, Chiatante G, Maggiolini FAM, Blanché H, Underwood JG, Antonacci F, Deleuze JF, Eichler EE. Hsieh P, et al. Science. 2019 Oct 18;366(6463):eaax2083. doi: 10.1126/science.aax2083. Science. 2019. PMID: 31624180 Free PMC article.
Genome sequencing identifies multiple deleterious variants in autism patients with more severe phenotypes.
Guo H, Duyzend MH, Coe BP, Baker C, Hoekzema K, Gerdts J, Turner TN, Zody MC, Beighley JS, Murali SC, Nelson BJ; University of Washington Center for Mendelian Genomics; Bamshad MJ, Nickerson DA, Bernier RA, Eichler EE. Guo H, et al. Genet Med. 2019 Jul;21(7):1611-1620. doi: 10.1038/s41436-018-0380-2. Epub 2018 Dec 3. Genet Med. 2019. PMID: 30504930 Free PMC article.
254 results