Eichler EE. (2023). Sampling a wide swathe of primate genetic diversity. Cell Genom Jul 12;3(7):100358.
Blog Archives
Characterization of large-scale genomic differences in the first complete human genome
Yang X, Wang X, Zou Y, Zhang S, Xia M, Fu L, Vollger MR, Chen NC, Taylor DJ, Harvey WT, Logsdon GA, Meng D, Shi J, McCoy RC, Schatz MC, Li W, Eichler EE, Lu Q, Mao Y. (2023). Characterization of large-scale genomic differences in the first complete human genome. Genome Biol Jul 4;24(1):157.
Applications of long-read sequencing to Mendelian genetics
Mastrorosa FK, Miller DE, Eichler EE. (2023). Applications of long-read sequencing to Mendelian genetics. Genome Med Jun 14;15(1):42.Review.
PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production
Ebstein F, Küry S, Most V, Rosenfelt C, Scott-Boyer MP, van Woerden GM, Besnard T, Papendorf JJ, Studencka-Turski M, Wang T, Hsieh TC, Golnik R, Baldridge D, Forster C, de Konink C, Teurlings SMW, Vignard V, van Jaarsveld RH, Ades L, Cogné B, Mignot C, Deb W, Jongmans MCJ, Cole FS, van den Boogaard MH, Wambach JA, Wegner DJ, Yang S, Hannig V, Brault JA, Zadeh N, Bennetts B, Keren B, Gélineau AC, Powis Z, Towne M, Bachman K, Seeley A, Beck AE, Morrison J, Westman R, Averill K, Brunet T, Haasters J, Carter MT, Osmond M, Wheeler PG, Forzano F, Mohammed S, Trakadis Y, Accogli A, Harrison R, Guo Y, Hakonarson H, Rondeau S, Baujat G, Barcia G, Feichtinger RG, Mayr JA, Preisel M, Laumonnier F, Kallinich T, Knaus A, Isidor B, Krawitz P, Völker U, Hammer E, Droit A, Eichler EE, Elgersma Y, Hildebrand PW, Bolduc F, Krüger E, Bézieau S. (2023). PSMC3 proteasome subunit variants are associated with neurodevelopmental delay and type I interferon production. Sci Transl Med May 31;15(698):eabo3189.
Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements
Ferraj A, Audano PA, Balachandran P, Czechanski A, Flores JI, Radecki AA, Mosur V, Gordon DS, Walawalkar IA, Eichler EE, Reinholdt LG, Beck CR. (2023). Resolution of structural variation in diverse mouse genomes reveals chromatin remodeling due to transposable elements. Cell Genom Apr 5;3(5):100291.
Gaps and complex structurally variant loci in phased genome assemblies
Porubsky D, Vollger MR, Harvey WT, Rozanski AN, Ebert P, Hickey G, Hasenfeld P, Sanders AD, Stober C; Human Pangenome Reference Consortium; Korbel JO, Paten B, Marschall T, Eichler EE. (2023). Gaps and complex structurally variant loci in phased genome assemblies. Genome Res Apr;33(4):496-510.
Increased mutation and gene conversion within human segmental duplications
Vollger MR, Dishuck PC, Harvey WT, DeWitt WS, Guitart X, Goldberg ME, Rozanski AN, Lucas J, Asri M; Human Pangenome Reference Consortium; Munson KM, Lewis AP, Hoekzema K, Logsdon GA, Porubsky D, Paten B, Harris K, Hsieh P, Eichler EE. (2023). Increased mutation and gene conversion within human segmental duplications. Nature May;617(7960):325-334.
Inversion polymorphism in a complete human genome assembly
Porubsky D, Harvey WT, Rozanski AN, Ebler J, Höps W, Ashraf H, Hasenfeld P; Human Pangenome Reference Consortium (HPRC); Human Genome Structural Variation Consortium (HGSVC); Paten B, Sanders AD, Marschall T, Korbel JO, Eichler EE. (2023). Inversion polymorphism in a complete human genome assembly. Genome Biol Apr 30;24(1):100.
Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice
Ding Z, Huang G, Wang T, Duan W, Li H, Wang Y, Jia H, Yang Z, Wang K, Chu X, Kurtz-Nelson EC, Ahlers K, Earl RK, Han Y, Feliciano P, Chung WK, Eichler EE, Jiang M, Xiong B. (2023). Genetic ablation of GIGYF1, associated with autism, causes behavioral and neurodevelopmental defects in zebrafish and mice. Biol Psychiatry Nov 15;94(10):769-779.
Telomere-to-telomere assembly of diploid chromosomes with Verkko
Rautiainen M, Nurk S, Walenz BP, Logsdon GA, Porubsky D, Rhie A, Eichler EE, Phillippy AM, Koren S. (2023). Telomere-to-telomere assembly of diploid chromosomes with Verkko. Nat Biotechnol Oct;41(10):1474-1482.
GAVISUNK: Genome assembly validation via inter-SUNK distances in Oxford Nanopore reads
Dishuck PC, Rozanski AN, Logsdon GA, Porubsky D, Eichler EE. (2023). GAVISUNK: Genome assembly validation via inter-SUNK distances in Oxford Nanopore reads. Bioinformatics Jan 1;39(1):btac714.