Mefford HC, Eichler EE. (2009). Duplication hotspots, rare genomic disorders, and common disease. Curr Opin Genet Dev Jun;19(3):196-204.
Blog Archives
Lineage-specific biology revealed by a finished genome assembly of the mouse
Church DM, Goodstadt L, Hillier LW, Zody MC, Goldstein S, She X, Bult CJ, Agarwala R, Cherry JL, DiCuccio M, Hlavina W, Kapustin Y, Meric P, Maglott D, Birtle Z, Marques AC, Graves T, Zhou S, Teague B, Potamousis K, Churas C, Place M, Herschleb J, Runnheim R, Forrest D, Amos-Landgraf J, Schwartz DC, Cheng Z, Lindblad-Toh K, Eichler EE, Ponting CP; Mouse Genome Sequencing Consortium. (2009). Lineage-specific biology revealed by a finished genome assembly of the mouse. PLoS Biol May 5;7(5):e1000112.
Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes
Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC. (2009). Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes. Genome Res
Jul;19(7):1270-8.
New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset
Cellamare A, Catacchio CR, Alkan C, Giannuzzi G, Antonacci F, Cardone MF, Della Valle G, Malig M, Rocchi M, Eichler EE, Ventura M. (2009). New insights into centromere organization and evolution from the white-cheeked gibbon and marmoset. Mol Biol Evol Aug;26(8):1889-900.
Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes
Zhao Y, Marotta M, Eichler EE, Eng C, Tanaka H. (2009). Linkage disequilibrium between two high-frequency deletion polymorphisms: implications for association studies involving the glutathione-S transferase (GST) genes. PLoS Genet May;5(5):e1000472.
Comparative analysis of Alu repeats in primate genomes
Liu GE, Alkan C, Jiang L, Zhao S, Eichler EE. (2009). Comparative analysis of Alu repeats in primate genomes. Genome Res May;19(5):876-85.
The genome sequence of taurine cattle: a window to ruminant biology and evolution
Bovine Genome Sequencing and Analysis Consortium, Elsik CG, Tellam RL, Worley KC, Gibbs RA, Muzny DM, Weinstock GM, Adelson DL, Eichler EE, (298 authors), Zhao FQ. (2009). The genome sequence of taurine cattle: a window to ruminant biology and evolution. Science Apr 24;324(5926):522-8.
Characterization of six human disease-associated inversion polymorphisms
Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE. (2009). Characterization of six human disease-associated inversion polymorphisms. Hum Mol Genet Jul 15;18(14):2555-66.
Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome
van Bon BW, Mefford HC, Menten B, Koolen DA, Sharp AJ, Nillesen WM, Innis JW, de Ravel TJ, Mercer CL, Fichera M, Stewart H, Connell LE, Ounap K, Lachlan K, Castle B, Van der Aa N, van Ravenswaaij C, Nobrega MA, Serra-Juhe C, Simonic I, de Leeuw N, Pfundt R, Bongers EM, Baker C, Finnemore P, Huang S, Maloney VK, Crolla JA, van Kalmthout M, Elia M, Vandeweyer G, Fryns JP, Janssens S, Foulds N, Reitano S, Smith K, Parkel S, Loeys B, Woods CG, Oostra A, Speleman F, Pereira AC, Kurg A, Willatt L, Knight SJ, Vermeesch JR, Romano C, Barber JC, Mortier G, Perez-Jurado LA, Kooy F, Brunner HG, Eichler EE, Kleefstra T, de Vries BB. (2009). Further delineation of the 15q13 microdeletion and duplication syndromes: A clinical spectrum varying from non-pathogenic to a severe outcome. J Med Genet Aug;46(8):511-23.
Death and resurrection of the human IRGM gene
Bekpen C, Marques-Bonet T, Alkan C, Antonacci F, Leogrande MB, Ventura M, Kidd JM, Siswara P, Howard JC, Eichler EE. (2009). Death and resurrection of the human IRGM gene. PLoS Genet Mar;5(3):e1000403.
A burst of segmental duplications in the genome of the African great ape ancestor
Marques-Bonet T, Kidd JM, Ventura M, Graves TA, Cheng Z, Hillier LW, Jiang Z, Baker C, Malfavon-Borja R, Fulton LA, Alkan C, Aksay G, Girirajan S, Siswara P, Chen L, Cardone MF, Navarro A, Mardis ER, Wilson RK, Eichler EE. (2009). A burst of segmental duplications in the genome of the African great ape ancestor. Nature Feb 12;457(7231):877-81.
Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis
de Cid R, Riveira-Munoz E, Zeeuwen PL, Robarge J, Liao W, Dannhauser EN, Giardina E, Stuart PE, Nair R, Helms C, Escaramis G, Ballana E, Martin-Ezquerra G, den Heijer M, Kamsteeg M, Joosten I, Eichler EE, Lazaro C, Pujol RM, Armengol L, Abecasis G, Elder JT, Novelli G, Armour JA, Kwok PY, Bowcock A, Schalkwijk J, Estivill X. (2009). Deletion of the late cornified envelope LCE3B and LCE3C genes as a susceptibility factor for psoriasis. Nat Genet Feb;41(2):211-5.