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Table representation of search results timeline featuring number of search results per year.

Year Number of Results
1995 3
1997 2
1998 4
1999 7
2000 4
2001 5
2002 1
2003 3
2004 2
2005 2
2006 8
2007 3
2009 1
2010 1
2011 2
2012 4
2013 1
2014 2
2015 2
2016 1
2017 1
2018 1
2019 1
2020 1
2022 2
2023 1
2024 0

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62 results

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Page 1
Human genome anatomy: BACs integrating the genetic and cytogenetic maps for bridging genome and biomedicine.
Korenberg JR, Chen XN, Sun Z, Shi ZY, Ma S, Vataru E, Yimlamai D, Weissenbach JS, Shizuya H, Simon MI, Gerety SS, Nguyen H, Zemsteva IS, Hui L, Silva J, Wu X, Birren BW, Hudson TJ. Korenberg JR, et al. Genome Res. 1999 Oct;9(10):994-1001. doi: 10.1101/gr.9.10.994. Genome Res. 1999. PMID: 10523528 Free PMC article.
Because each map represents a different aspect of the structure, content, and behavior of human chromosomes, these fundamental properties must be integrated with the genome to understand disease genes, cancer instability, and human evolution. Cytogenetic maps use 400-850 v …
Because each map represents a different aspect of the structure, content, and behavior of human chromosomes, these fundamental properties mu …
Detection of structural mosaicism from targeted and whole-genome sequencing data.
King DA, Sifrim A, Fitzgerald TW, Rahbari R, Hobson E, Homfray T, Mansour S, Mehta SG, Shehla M, Tomkins SE, Vasudevan PC, Hurles ME; Deciphering Developmental Disorders Study. King DA, et al. Genome Res. 2017 Oct;27(10):1704-1714. doi: 10.1101/gr.212373.116. Epub 2017 Aug 30. Genome Res. 2017. PMID: 28855261 Free PMC article.
Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray testing. Modern disease studies rely heavily on exome sequencing, yet an adequate method for the detection of structural mosaicism using targeted sequencing data is lac …
Such mutations have been conventionally assessed in clinical diagnostics using cytogenetic or microarray testing. Modern disease stud …
A high-resolution map of small-scale inversions in the gibbon genome.
Mercuri L, Palmisano D, L'Abbate A, D'Addabbo P, Montinaro F, Catacchio CR, Hasenfeld P, Ventura M, Korbel JO, Sanders AD, Maggiolini FAM, Antonacci F. Mercuri L, et al. Genome Res. 2022 Oct;32(10):1941-1951. doi: 10.1101/gr.276960.122. Epub 2022 Sep 30. Genome Res. 2022. PMID: 36180231 Free PMC article.
Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, and deep in silico analysis of a southern white-cheeked gibbon genome, providing the first comprehensive map of 238 previously hidden small-scale inversions. ...
Here we performed single-cell template strand sequencing (Strand-seq), molecular cytogenetics, and deep in silico analysis of a south …
Inversion variants in human and primate genomes.
Catacchio CR, Maggiolini FAM, D'Addabbo P, Bitonto M, Capozzi O, Lepore Signorile M, Miroballo M, Archidiacono N, Eichler EE, Ventura M, Antonacci F. Catacchio CR, et al. Genome Res. 2018 Jun;28(6):910-920. doi: 10.1101/gr.234831.118. Epub 2018 May 18. Genome Res. 2018. PMID: 29776991 Free PMC article.
Nevertheless, they represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. Here, we performed a genome-wide comparison between human, great ape, and macaque genomes using the net alignments for the most recent release …
Nevertheless, they represent large events easily distinguishable by classical cytogenetics, whose resolution, however, is limited. He …
The Release 6 reference sequence of the Drosophila melanogaster genome.
Hoskins RA, Carlson JW, Wan KH, Park S, Mendez I, Galle SE, Booth BW, Pfeiffer BD, George RA, Svirskas R, Krzywinski M, Schein J, Accardo MC, Damia E, Messina G, Méndez-Lago M, de Pablos B, Demakova OV, Andreyeva EN, Boldyreva LV, Marra M, Carvalho AB, Dimitri P, Villasante A, Zhimulev IF, Rubin GM, Karpen GH, Celniker SE. Hoskins RA, et al. Genome Res. 2015 Mar;25(3):445-58. doi: 10.1101/gr.185579.114. Epub 2015 Jan 14. Genome Res. 2015. PMID: 25589440 Free PMC article.
Here, we report an improved reference sequence of the single-copy and middle-repetitive regions of the genome, produced using cytogenetic mapping to mitotic and polytene chromosomes, clone-based finishing and BAC fingerprint verification, ordering of scaffolds by alignment …
Here, we report an improved reference sequence of the single-copy and middle-repetitive regions of the genome, produced using cytogenetic …
Natural variation in genome architecture among 205 Drosophila melanogaster Genetic Reference Panel lines.
Huang W, Massouras A, Inoue Y, Peiffer J, Ràmia M, Tarone AM, Turlapati L, Zichner T, Zhu D, Lyman RF, Magwire MM, Blankenburg K, Carbone MA, Chang K, Ellis LL, Fernandez S, Han Y, Highnam G, Hjelmen CE, Jack JR, Javaid M, Jayaseelan J, Kalra D, Lee S, Lewis L, Munidasa M, Ongeri F, Patel S, Perales L, Perez A, Pu L, Rollmann SM, Ruth R, Saada N, Warner C, Williams A, Wu YQ, Yamamoto A, Zhang Y, Zhu Y, Anholt RR, Korbel JO, Mittelman D, Muzny DM, Gibbs RA, Barbadilla A, Johnston JS, Stone EA, Richards S, Deplancke B, Mackay TF. Huang W, et al. Genome Res. 2014 Jul;24(7):1193-208. doi: 10.1101/gr.171546.113. Epub 2014 Apr 8. Genome Res. 2014. PMID: 24714809 Free PMC article.
Insertion/deletion and single nucleotide polymorphisms are positively correlated with each other and with local recombination, suggesting that their nonrandom distributions are due to hitchhiking and background selection. Our cytogenetic analysis identified 16 polymorphic …
Insertion/deletion and single nucleotide polymorphisms are positively correlated with each other and with local recombination, suggesting th …
Diversification and collapse of a telomere elongation mechanism.
Saint-Leandre B, Nguyen SC, Levine MT. Saint-Leandre B, et al. Genome Res. 2019 Jun;29(6):920-931. doi: 10.1101/gr.245001.118. Epub 2019 May 28. Genome Res. 2019. PMID: 31138619 Free PMC article.
In Drosophila biarmipes, telomere-specialized elements have disappeared completely. De novo assembly of long reads and cytogenetics confirmed this species-specific collapse of retrotransposon-dependent telomere elongation. ...
In Drosophila biarmipes, telomere-specialized elements have disappeared completely. De novo assembly of long reads and cytogenetics c …
Novel H3K4me3 marks are enriched at human- and chimpanzee-specific cytogenetic structures.
Giannuzzi G, Migliavacca E, Reymond A. Giannuzzi G, et al. Genome Res. 2014 Sep;24(9):1455-68. doi: 10.1101/gr.167742.113. Epub 2014 Jun 10. Genome Res. 2014. PMID: 24916972 Free PMC article.
However, they differ structurally in nine pericentric inversions, one fusion that originated human chromosome 2, and content and localization of heterochromatin and lineage-specific segmental duplications. The possible functional consequences of these cytogenetic and struc …
However, they differ structurally in nine pericentric inversions, one fusion that originated human chromosome 2, and content and localizatio …
Mouse molecular cytogenetic resource: 157 BACs link the chromosomal and genetic maps.
Korenberg JR, Chen XN, Devon KL, Noya D, Oster-Granite ML, Birren BW. Korenberg JR, et al. Genome Res. 1999 May;9(5):514-23. Genome Res. 1999. PMID: 10330132 Free PMC article.
We have established a collection of strong molecular cytogenetic markers that span the mouse autosomes and X chromosome at an average spacing of one per 19 Mb and identify 127 distinct band landmarks. In addition, this Mouse Molecular Cytogenetic Resource relates th …
We have established a collection of strong molecular cytogenetic markers that span the mouse autosomes and X chromosome at an average …
62 results