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Blog Archives
Mapping and sequencing of structural variation from eight human genomes
Kidd JM, Cooper GM, Donahue WF, Hayden HS, Sampas N, Graves T, Hansen N, Teague B, Alkan C, Antonacci F, Haugen E, Zerr T, Yamada NA, Tsang P, Newman TL, Tuzun E, Cheng Z, Ebling HM, Tusneem N, David R, Gillett W, Phelps KA, Weaver M, Saranga D, Brand A, Tao W, Gustafson E, McKernan K, Chen L, Malig M, Smith JD, Korn JM, McCarroll SA, Altshuler DA, Peiffer DA, Dorschner M, Stamatoyannopoulos J, Schwartz D, Nickerson DA, Mullikin JC, Wilson RK, Bruhn L, Olson MV, Kaul R, Smith DR, Eichler EE. (2008). Mapping and sequencing of structural variation from eight human genomes. Nature May 1;453(7191):56-64.
Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions
Kirsch S, Munch C, Jiang Z, Cheng Z, Chen L, Batz C, Eichler EE, Schempp W. (2008). Evolutionary dynamics of segmental duplications from human Y-chromosomal euchromatin/heterochromatin transition regions. Genome Res June;18(6):1030.1042.
Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia
Walsh T, McClellan JM, McCarthy SE, Addington AM, Pierce SB, Cooper GM, Nord AS, Kusenda M, Malhotra D, Bhandari A, Stray SM, Rippey CF, Roccanova P, Makarov V, Lakshmi B, Findling RL, Sikich L, Stromberg T, Merriman B, Gogtay N, Butler P, Eckstrand K, Noory L, Gochman P, Long R, Chen Z, Davis S, Baker C, Eichler EE, Meltzer PS, Nelson SF, Singleton AB, Lee MK, Rapoport JL, King MC, Sebat J. (2008). Rare structural variants disrupt multiple genes in neurodevelopmental pathways in schizophrenia. Science Apr 25;320(5875):539-43.
A recurrent 15q13
Sharp AJ, Mefford HC, Li K, Baker C, Skinner C, Stevenson RE, Schroer RJ, Novara F, De Gregori M, Ciccone R, Broomer A, Casuga I, Wang Y, Xiao C, Barbacioru C, Gimelli G, Bernardina BD, Torniero C, Giorda R, Regan R, Murday V, Mansour S, Fichera M, Castiglia L, Failla P, Ventura M, Jiang Z, Cooper GM, Knight SJ, Romano C, Zuffardi O, Chen C, Schwartz CE, Eichler EE. (2008). A recurrent 15q13.3 microdeletion syndrome associated with mental retardation and seizures. Nat Genet Mar;40(3):322-328.
Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication
Cardone MF, Jiang Z, D’Addabbo P, Archidiacono N, Rocchi M, Eichler EE, Ventura M. (2008). Hominoid chromosomal rearrangements on 17q map to complex regions of segmental duplication. Genome Biol Feb 7;9(2):R28.
A hot spot of genetic instability in autism
Eichler EE, Zimmerman AW. (2008). A hot spot of genetic instability in autism. N Engl J Med Feb 14;358(7):737-739 (Jan 9 2008).
Human copy number polymorphic genes
Bailey JA, Kidd JM, Eichler EE. (2008). Human copy number polymorphic genes. Cytogenet Genome Res 123(1-4):234-43.
Closing gaps in the human genome with fosmid resources generated from multiple individuals
Bovee D, Zhou Y, Haugen E, Wu Z, Hayden HS, Gillett W, Tüzün E, Cooper GM, Sampas N, Phelps K, Levy R, Morrison VA, Sprague J, Jewett D, Buckley D, Subramaniam S, Chang J, Smith DR, Olson MV, Eichler EE, Kaul R. (2008). Closing gaps in the human genome with fosmid resources generated from multiple individuals. Nat Genet Jan;40(1):96-101.