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Results: 1 to 20 of 29

1.

A fast and accurate method to detect allelic genomic imbalances underlying mosaic rearrangements using SNP array data.

González JR, Rodríguez-Santiago B, Cáceres A, Pique-Regi R, Rothman N, Chanock SJ, Armengol L, Pérez-Jurado LA.

BMC Bioinformatics. 2011 May 17;12:166. doi: 10.1186/1471-2105-12-166.

PMID:
21586113
[PubMed - indexed for MEDLINE]
Free PMC Article
2.

A map of human genome variation from population-scale sequencing.

1000 Genomes Project Consortium, Abecasis GR, Altshuler D, Auton A, Brooks LD, Durbin RM, Gibbs RA, Hurles ME, McVean GA.

Nature. 2010 Oct 28;467(7319):1061-73. doi: 10.1038/nature09534. Erratum in: Nature. 2011 May 26;473(7348):544. Xue, Yali [added]; Cartwright, Reed A [added]; Altshuler, David L [corrected to Altshuler, David]; Kebbel, Andrew [corrected to Keebler, Jonathan]; Koko-Gonzales, Paula [corrected to Kokko-Gonzales, Paula]; Nickerson, Debbie A [corrected to Nickerson, Deborah A].

PMID:
20981092
[PubMed - indexed for MEDLINE]
Free PMC Article
3.

How and why chromosome inversions evolve.

Kirkpatrick M.

PLoS Biol. 2010 Sep 28;8(9). pii: e1000501. doi: 10.1371/journal.pbio.1000501. No abstract available.

PMID:
20927412
[PubMed - indexed for MEDLINE]
Free PMC Article
4.
5.

Identification and frequency estimation of inversion polymorphisms from haplotype data.

Sindi SS, Raphael BJ.

J Comput Biol. 2010 Mar;17(3):517-31. doi: 10.1089/cmb.2009.0185.

PMID:
20377461
[PubMed - indexed for MEDLINE]
6.

invertFREGENE: software for simulating inversions in population genetic data.

O'Reilly PF, Coin LJ, Hoggart CJ.

Bioinformatics. 2010 Mar 15;26(6):838-40. doi: 10.1093/bioinformatics/btq029. Epub 2010 Jan 26.

PMID:
20106819
[PubMed - indexed for MEDLINE]
Free Article
7.

Nucleotide, cytogenetic and expression impact of the human chromosome 8p23.1 inversion polymorphism.

Bosch N, Morell M, Ponsa I, Mercader JM, Armengol L, Estivill X.

PLoS One. 2009 Dec 14;4(12):e8269. doi: 10.1371/journal.pone.0008269. Erratum in: PLoS One. 2010;5(6). doi: 10.1371/annotation/f551fde5-fde4-4485-9e9d-c94bd501a078.

PMID:
20011547
[PubMed - indexed for MEDLINE]
Free PMC Article
8.

Characterization of six human disease-associated inversion polymorphisms.

Antonacci F, Kidd JM, Marques-Bonet T, Ventura M, Siswara P, Jiang Z, Eichler EE.

Hum Mol Genet. 2009 Jul 15;18(14):2555-66. doi: 10.1093/hmg/ddp187. Epub 2009 Apr 21.

PMID:
19383631
[PubMed - indexed for MEDLINE]
Free PMC Article
9.

Chromosome 17: association of a large inversion polymorphism with corticosteroid response in asthma.

Tantisira KG, Lazarus R, Litonjua AA, Klanderman B, Weiss ST.

Pharmacogenet Genomics. 2008 Aug;18(8):733-7. doi: 10.1097/FPC.0b013e3282fe6ebf.

PMID:
18622266
[PubMed - indexed for MEDLINE]
Free PMC Article
10.

An unusual haplotype structure on human chromosome 8p23 derived from the inversion polymorphism.

Deng L, Zhang Y, Kang J, Liu T, Zhao H, Gao Y, Li C, Pan H, Tang X, Wang D, Niu T, Yang H, Zeng C.

Hum Mutat. 2008 Oct;29(10):1209-16. doi: 10.1002/humu.20775.

PMID:
18473345
[PubMed - indexed for MEDLINE]
11.

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.

PMID:
18451855
[PubMed - indexed for MEDLINE]
Free PMC Article
12.

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.

PMID:
17901297
[PubMed - indexed for MEDLINE]
Free PMC Article
13.

The diploid genome sequence of an individual human.

Levy S, Sutton G, Ng PC, Feuk L, Halpern AL, Walenz BP, Axelrod N, Huang J, Kirkness EF, Denisov G, Lin Y, MacDonald JR, Pang AW, Shago M, Stockwell TB, Tsiamouri A, Bafna V, Bansal V, Kravitz SA, Busam DA, Beeson KY, McIntosh TC, Remington KA, Abril JF, Gill J, Borman J, Rogers YH, Frazier ME, Scherer SW, Strausberg RL, Venter JC.

PLoS Biol. 2007 Sep 4;5(10):e254.

PMID:
17803354
[PubMed - indexed for MEDLINE]
Free PMC Article
14.

Microinversions in mammalian evolution.

Chaisson MJ, Raphael BJ, Pevzner PA.

Proc Natl Acad Sci U S A. 2006 Dec 26;103(52):19824-9. Epub 2006 Dec 22.

PMID:
17189424
[PubMed - indexed for MEDLINE]
Free PMC Article
15.

Evidence for large inversion polymorphisms in the human genome from HapMap data.

Bansal V, Bashir A, Bafna V.

Genome Res. 2007 Feb;17(2):219-30. Epub 2006 Dec 21.

PMID:
17185644
[PubMed - indexed for MEDLINE]
Free PMC Article
16.

Breakpoint cloning and haplotype analysis indicate a single origin of the common Inv(10)(p11.2q21.2) mutation among northern Europeans.

Gilling M, Dullinger JS, Gesk S, Metzke-Heidemann S, Siebert R, Meyer T, Brondum-Nielsen K, Tommerup N, Ropers HH, Tumer Z, Kalscheuer VM, Thomas NS.

Am J Hum Genet. 2006 May;78(5):878-83. Epub 2006 Mar 17.

PMID:
16642442
[PubMed - indexed for MEDLINE]
Free PMC Article
17.

A fast and flexible statistical model for large-scale population genotype data: applications to inferring missing genotypes and haplotypic phase.

Scheet P, Stephens M.

Am J Hum Genet. 2006 Apr;78(4):629-44. Epub 2006 Feb 17.

PMID:
16532393
[PubMed - indexed for MEDLINE]
Free PMC Article
18.

Patterns of diversity and linkage disequilibrium within the cosmopolitan inversion In(3R)Payne in Drosophila melanogaster are indicative of coadaptation.

Kennington WJ, Partridge L, Hoffmann AA.

Genetics. 2006 Mar;172(3):1655-63. Epub 2005 Dec 1.

PMID:
16322502
[PubMed - indexed for MEDLINE]
Free PMC Article
19.

Discovery of human inversion polymorphisms by comparative analysis of human and chimpanzee DNA sequence assemblies.

Feuk L, MacDonald JR, Tang T, Carson AR, Li M, Rao G, Khaja R, Scherer SW.

PLoS Genet. 2005 Oct;1(4):e56. Epub 2005 Oct 28.

PMID:
16254605
[PubMed - indexed for MEDLINE]
Free PMC Article
20.

A common inversion under selection in Europeans.

Stefansson H, Helgason A, Thorleifsson G, Steinthorsdottir V, Masson G, Barnard J, Baker A, Jonasdottir A, Ingason A, Gudnadottir VG, Desnica N, Hicks A, Gylfason A, Gudbjartsson DF, Jonsdottir GM, Sainz J, Agnarsson K, Birgisdottir B, Ghosh S, Olafsdottir A, Cazier JB, Kristjansson K, Frigge ML, Thorgeirsson TE, Gulcher JR, Kong A, Stefansson K.

Nat Genet. 2005 Feb;37(2):129-37. Epub 2005 Jan 16.

PMID:
15654335
[PubMed - indexed for MEDLINE]
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