Logsdon GA, Rozanski AN, Ryabov F, Potapova T, Shepelev VA, Catacchio CR, Porubsky D, Mao Y, Yoo D, Rautiainen M, Koren S, Nurk S, Lucas JK, Hoekzema K, Munson KM, Gerton JL, Phillippy AM, Ventura M, Alexandrov IA, Eichler EE. (2024). The variation and evolution of complete human centromeres. Nature May;629(8010):136-145.
Blog Archives
Phased nanopore assembly with Shasta and modular graph phasing with GFAse
Lorig-Roach R, Meredith M, Monlong J, Jain M, Olsen HE, McNulty B, Porubsky D, Montague TG, Lucas JK, Condon C, Eizenga JM, Juul S, McKenzie SK, Simmonds SE, Park J, Asri M, Koren S, Eichler EE, Axel R, Martin B, Carnevali P, Miga KH, Paten B. (2024). Phased nanopore assembly with Shasta and modular graph phasing with GFAse. Genome Res Apr 25;34(3):454-468.
Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions
Neuhaus E, Rea H, Jones E, Benavidez H, Miles C, Whiting A, Johansson M, Eayrs C, Kurtz-Nelson EC, Earl R, Bernier RA, Eichler EE. (2024). Shared and divergent mental health characteristics of ADNP-, CHD8- and DYRK1A-related neurodevelopmental conditions. J Neurodev Disord Apr 15;16(1):15.
A 25-year odyssey of genomic technology advances and structural variant discovery
Porubsky D, Eichler EE. (2024). A 25-year odyssey of genomic technology advances and structural variant discovery. Cell Feb 29;187(5):1024-1037.
Structurally divergent and recurrently mutated regions of primate genomes
Mao Y, Harvey WT, Porubsky D, Munson KM, Hoekzema K, Lewis AP, Audano PA, Rozanski A, Yang X, Zhang S, Yoo D, Gordon DS, Fair T, Wei X, Logsdon GA, Haukness M, Dishuck PC, Jeong H, Del Rosario R, Bauer VL, Fattor WT, Wilkerson GK, Mao Y, Shi Y, Sun Q, Lu Q, Paten B, Bakken TE, Pollen AA, Feng G, Sawyer SL, Warren WC, Carbone L, Eichler EE. (2024). Structurally divergent and recurrently mutated regions of primate genomes. Cell Mar 14;187(6):1547-1562.e13.
Personal journeys to and in human genetics and dysmorphology
Schwartz CE, Aylsworth AS, Allanson J, Battaglia A, Carey JC, Curry CJ, Davies KE, Eichler EE, Graham JM Jr, Hall B, Hall JG, Holmes LB, Hoyme HE, Hunter A, Innis J, Johnson J, Keppler-Noreuil KM, Leroy JG, Moore C, Nelson DL, Neri G, Opitz JM, Picketts D, Raymond FL, Shalev SA, Stevenson RE, Stumpel CTRM, Sutherland G, Viskochil DH, Weaver DD, Zackai EH. (2024). Personal journeys to and in human genetics and dysmorphology. Am J Med Genet A Jun;194(6):e63514. doi: 10.1002/ajmg.a.63514. Epub 2024 Feb 8.
Effects of parental age and polymer composition on short tandem repeat de novo mutation rates
Goldberg ME, Noyes MD, Eichler EE, Quinlan AR, Harris K. (2024). Effects of parental age and polymer composition on short tandem repeat de novo mutation rates. Genetics Apr 3;226(4):iyae013.
Utility of long-read sequencing for All of Us
Mahmoud M, Huang Y, Garimella K, Audano PA, Wan W, Prasad N, Handsaker RE, Hall S, Pionzio A, Schatz MC, Talkowski ME, Eichler EE, Levy SE, Sedlazeck FJ. (2024). Utility of long-read sequencing for All of Us. Nat Commun Jan 29;15(1):837.
Characterizing sensory phenotypes of subgroups with a known genetic etiology pertaining to diagnoses of autism spectrum disorder and intellectual disability
Hudac CM, Friedman NR, Ward VR, Estreicher RE, Dorsey GC, Bernier RA, Kurtz-Nelson EC, Earl RK, Eichler EE, Neuhaus E. (2024). Characterizing sensory phenotypes of subgroups with a known genetic etiology pertaining to diagnoses of autism spectrum disorder and intellectual disability. J Autism Dev Disord Jun;54(6):2386-2401. doi: 10.1007/s10803-023-05897-9. Epub 2023 Apr 8.
