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Items: 1 to 20 of 106

1.

A human genome structural variation sequencing resource reveals insights into mutational mechanisms.

Kidd JM, Graves T, Newman TL, Fulton R, Hayden HS, Malig M, Kallicki J, Kaul R, Wilson RK, Eichler EE.

Cell. 2010 Nov 24;143(5):837-47. doi: 10.1016/j.cell.2010.10.027.

2.

Unbalanced translocations arise from diverse mutational mechanisms including chromothripsis.

Weckselblatt B, Hermetz KE, Rudd MK.

Genome Res. 2015 Jul;25(7):937-47. doi: 10.1101/gr.191247.115. Epub 2015 Jun 12.

3.

Characterization of missing human genome sequences and copy-number polymorphic insertions.

Kidd JM, Sampas N, Antonacci F, Graves T, Fulton R, Hayden HS, Alkan C, Malig M, Ventura M, Giannuzzi G, Kallicki J, Anderson P, Tsalenko A, Yamada NA, Tsang P, Kaul R, Wilson RK, Bruhn L, Eichler EE.

Nat Methods. 2010 May;7(5):365-71.

4.

Identifying structural variation in haploid microbial genomes from short-read resequencing data using breseq.

Barrick JE, Colburn G, Deatherage DE, Traverse CC, Strand MD, Borges JJ, Knoester DB, Reba A, Meyer AG.

BMC Genomics. 2014 Nov 29;15:1039. doi: 10.1186/1471-2164-15-1039.

5.

Genomic rearrangements in inherited disease and cancer.

Chen JM, Cooper DN, Férec C, Kehrer-Sawatzki H, Patrinos GP.

Semin Cancer Biol. 2010 Aug;20(4):222-33. doi: 10.1016/j.semcancer.2010.05.007. Epub 2010 Jun 9. Review.

PMID:
20541013
6.

Mutation spectrum revealed by breakpoint sequencing of human germline CNVs.

Conrad DF, Bird C, Blackburne B, Lindsay S, Mamanova L, Lee C, Turner DJ, Hurles ME.

Nat Genet. 2010 May;42(5):385-91. doi: 10.1038/ng.564. Epub 2010 Apr 4.

7.

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.

8.

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
9.
10.

Combinatorial algorithms for structural variation detection in high-throughput sequenced genomes.

Hormozdiari F, Alkan C, Eichler EE, Sahinalp SC.

Genome Res. 2009 Jul;19(7):1270-8. doi: 10.1101/gr.088633.108. Epub 2009 May 15.

11.

Breakpoint profiling of 64 cancer genomes reveals numerous complex rearrangements spawned by homology-independent mechanisms.

Malhotra A, Lindberg M, Faust GG, Leibowitz ML, Clark RA, Layer RM, Quinlan AR, Hall IM.

Genome Res. 2013 May;23(5):762-76. doi: 10.1101/gr.143677.112. Epub 2013 Feb 14.

12.

Challenges in studying genomic structural variant formation mechanisms: the short-read dilemma and beyond.

Onishi-Seebacher M, Korbel JO.

Bioessays. 2011 Nov;33(11):840-50. doi: 10.1002/bies.201100075. Epub 2011 Sep 30. Review.

PMID:
21959584
13.

Mechanisms of formation of structural variation in a fully sequenced human genome.

Pang AW, Migita O, Macdonald JR, Feuk L, Scherer SW.

Hum Mutat. 2013 Feb;34(2):345-54. doi: 10.1002/humu.22240. Epub 2012 Nov 19.

PMID:
23086744
14.

Analysis of crossover breakpoints yields new insights into the nature of the gene conversion events associated with large NF1 deletions mediated by nonallelic homologous recombination.

Bengesser K, Vogt J, Mussotter T, Mautner VF, Messiaen L, Cooper DN, Kehrer-Sawatzki H.

Hum Mutat. 2014 Feb;35(2):215-26. doi: 10.1002/humu.22473. Epub 2013 Dec 2.

PMID:
24186807
15.

Microhomology-mediated mechanisms underlie non-recurrent disease-causing microdeletions of the FOXL2 gene or its regulatory domain.

Verdin H, D'haene B, Beysen D, Novikova Y, Menten B, Sante T, Lapunzina P, Nevado J, Carvalho CM, Lupski JR, De Baere E.

PLoS Genet. 2013;9(3):e1003358. doi: 10.1371/journal.pgen.1003358. Epub 2013 Mar 14.

16.

Geographic distribution and adaptive significance of genomic structural variants: an anthropological genetics perspective.

Eaaswarkhanth M, Pavlidis P, Gokcumen O.

Hum Biol. 2014 Fall;86(4):260-75. Review.

PMID:
25959693
17.

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.

18.

Detection and characterization of novel sequence insertions using paired-end next-generation sequencing.

Hajirasouliha I, Hormozdiari F, Alkan C, Kidd JM, Birol I, Eichler EE, Sahinalp SC.

Bioinformatics. 2010 May 15;26(10):1277-83. doi: 10.1093/bioinformatics/btq152. Epub 2010 Apr 12.

19.

Structural variation in two human genomes mapped at single-nucleotide resolution by whole genome de novo assembly.

Li Y, Zheng H, Luo R, Wu H, Zhu H, Li R, Cao H, Wu B, Huang S, Shao H, Ma H, Zhang F, Feng S, Zhang W, Du H, Tian G, Li J, Zhang X, Li S, Bolund L, Kristiansen K, de Smith AJ, Blakemore AI, Coin LJ, Yang H, Wang J, Wang J.

Nat Biotechnol. 2011 Jul 24;29(8):723-30. doi: 10.1038/nbt.1904.

PMID:
21785424
20.

Structural variation in the human genome and its role in disease.

Stankiewicz P, Lupski JR.

Annu Rev Med. 2010;61:437-55. doi: 10.1146/annurev-med-100708-204735. Review.

PMID:
20059347
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