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Items: 12

1.

Modernizing reference genome assemblies.

Church DM, Schneider VA, Graves T, Auger K, Cunningham F, Bouk N, Chen HC, Agarwala R, McLaren WM, Ritchie GR, Albracht D, Kremitzki M, Rock S, Kotkiewicz H, Kremitzki C, Wollam A, Trani L, Fulton L, Fulton R, Matthews L, Whitehead S, Chow W, Torrance J, Dunn M, Harden G, Threadgold G, Wood J, Collins J, Heath P, Griffiths G, Pelan S, Grafham D, Eichler EE, Weinstock G, Mardis ER, Wilson RK, Howe K, Flicek P, Hubbard T.

PLoS Biol. 2011 Jul;9(7):e1001091. doi: 10.1371/journal.pbio.1001091. Epub 2011 Jul 5. No abstract available.

2.

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..

PLoS Biol. 2009 May 5;7(5):e1000112. doi: 10.1371/journal.pbio.1000112. Epub 2009 May 26.

3.

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, Tüzün 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.

Nature. 2008 May 1;453(7191):56-64. doi: 10.1038/nature06862.

4.

Paired-end mapping reveals extensive structural variation in the human genome.

Korbel JO, Urban AE, Affourtit JP, Godwin B, Grubert F, Simons JF, Kim PM, Palejev D, Carriero NJ, Du L, Taillon BE, Chen Z, Tanzer A, Saunders AC, Chi J, Yang F, Carter NP, Hurles ME, Weissman SM, Harkins TT, Gerstein MB, Egholm M, Snyder M.

Science. 2007 Oct 19;318(5849):420-6. Epub 2007 Sep 27.

5.

Population stratification of a common APOBEC gene deletion polymorphism.

Kidd JM, Newman TL, Tuzun E, Kaul R, Eichler EE.

PLoS Genet. 2007 Apr 20;3(4):e63.

6.

An initial map of insertion and deletion (INDEL) variation in the human genome.

Mills RE, Luttig CT, Larkins CE, Beauchamp A, Tsui C, Pittard WS, Devine SE.

Genome Res. 2006 Sep;16(9):1182-90. Epub 2006 Aug 10.

7.

Common deletions and SNPs are in linkage disequilibrium in the human genome.

Hinds DA, Kloek AP, Jen M, Chen X, Frazer KA.

Nat Genet. 2006 Jan;38(1):82-5. Epub 2005 Dec 4.

PMID:
16327809
8.

A high-resolution survey of deletion polymorphism in the human genome.

Conrad DF, Andrews TD, Carter NP, Hurles ME, Pritchard JK.

Nat Genet. 2006 Jan;38(1):75-81. Epub 2005 Dec 4.

PMID:
16327808
9.

Segmental duplications and copy-number variation in the human genome.

Sharp AJ, Locke DP, McGrath SD, Cheng Z, Bailey JA, Vallente RU, Pertz LM, Clark RA, Schwartz S, Segraves R, Oseroff VV, Albertson DG, Pinkel D, Eichler EE.

Am J Hum Genet. 2005 Jul;77(1):78-88. Epub 2005 May 25.

10.

Fine-scale structural variation of the human genome.

Tuzun E, Sharp AJ, Bailey JA, Kaul R, Morrison VA, Pertz LM, Haugen E, Hayden H, Albertson D, Pinkel D, Olson MV, Eichler EE.

Nat Genet. 2005 Jul;37(7):727-32. Epub 2005 May 15.

PMID:
15895083
11.

Finishing the euchromatic sequence of the human genome.

International Human Genome Sequencing Consortium..

Nature. 2004 Oct 21;431(7011):931-45.

PMID:
15496913
12.

Detection of large-scale variation in the human genome.

Iafrate AJ, Feuk L, Rivera MN, Listewnik ML, Donahoe PK, Qi Y, Scherer SW, Lee C.

Nat Genet. 2004 Sep;36(9):949-51. Epub 2004 Aug 1.

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