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Items: 1 to 20 of 180


Discovery of large genomic inversions using long range information.

Eslami Rasekh M, Chiatante G, Miroballo M, Tang J, Ventura M, Amemiya CT, Eichler EE, Antonacci F, Alkan C.

BMC Genomics. 2017 Jan 10;18(1):65. doi: 10.1186/s12864-016-3444-1.


Identification of complex genomic rearrangements in cancers using CouGaR.

Dzamba M, Ramani AK, Buczkowicz P, Jiang Y, Yu M, Hawkins C, Brudno M.

Genome Res. 2017 Jan;27(1):107-117. doi: 10.1101/gr.211201.116.


nbCNV: a multi-constrained optimization model for discovering copy number variants in single-cell sequencing data.

Zhang C, Cai H, Huang J, Song Y.

BMC Bioinformatics. 2016 Sep 17;17:384. doi: 10.1186/s12859-016-1239-7.


New challenges for BRCA testing: a view from the diagnostic laboratory.

Wallace AJ.

Eur J Hum Genet. 2016 Sep;24 Suppl 1:S10-8. doi: 10.1038/ejhg.2016.94. Review.


Identification and expression patterns of novel long non-coding RNAs in neural progenitors of the developing mammalian cortex.

Aprea J, Lesche M, Massalini S, Prenninger S, Alexopoulou D, Dahl A, Hiller M, Calegari F.

Neurogenesis (Austin). 2015 Apr 11;2(1):e995524. doi: 10.1080/23262133.2014.995524.


MUFFINN: cancer gene discovery via network analysis of somatic mutation data.

Cho A, Shim JE, Kim E, Supek F, Lehner B, Lee I.

Genome Biol. 2016 Jun 23;17(1):129. doi: 10.1186/s13059-016-0989-x.


Development and validation of a comprehensive genomic diagnostic tool for myeloid malignancies.

McKerrell T, Moreno T, Ponstingl H, Bolli N, Dias JM, Tischler G, Colonna V, Manasse B, Bench A, Bloxham D, Herman B, Fletcher D, Park N, Quail MA, Manes N, Hodkinson C, Baxter J, Sierra J, Foukaneli T, Warren AJ, Chi J, Costeas P, Rad R, Huntly B, Grove C, Ning Z, Tyler-Smith C, Varela I, Scott M, Nomdedeu J, Mustonen V, Vassiliou GS.

Blood. 2016 Jul 7;128(1):e1-9. doi: 10.1182/blood-2015-11-683334.


InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms.

Patel A, Edge P, Selvaraj S, Bansal V, Bafna V.

Nucleic Acids Res. 2016 Jul 8;44(12):e111. doi: 10.1093/nar/gkw281.


An NGS Workflow Blueprint for DNA Sequencing Data and Its Application in Individualized Molecular Oncology.

Li J, Batcha AM, Grüning B, Mansmann UR.

Cancer Inform. 2016 Apr 10;14(Suppl 5):87-107. doi: 10.4137/CIN.S30793. Review.


The tandem duplicator phenotype as a distinct genomic configuration in cancer.

Menghi F, Inaki K, Woo X, Kumar PA, Grzeda KR, Malhotra A, Yadav V, Kim H, Marquez EJ, Ucar D, Shreckengast PT, Wagner JP, MacIntyre G, Murthy Karuturi KR, Scully R, Keck J, Chuang JH, Liu ET.

Proc Natl Acad Sci U S A. 2016 Apr 26;113(17):E2373-82. doi: 10.1073/pnas.1520010113.


The impact and origin of copy number variations in the Oryza species.

Bai Z, Chen J, Liao Y, Wang M, Liu R, Ge S, Wing RA, Chen M.

BMC Genomics. 2016 Mar 29;17:261. doi: 10.1186/s12864-016-2589-2.


Altools: a user friendly NGS data analyser.

Camiolo S, Sablok G, Porceddu A.

Biol Direct. 2016 Feb 17;11(1):8. doi: 10.1186/s13062-016-0110-0.


Identifying micro-inversions using high-throughput sequencing reads.

He F, Li Y, Tang YH, Ma J, Zhu H.

BMC Genomics. 2016 Jan 11;17 Suppl 1:4. doi: 10.1186/s12864-015-2305-7.


SV-Bay: structural variant detection in cancer genomes using a Bayesian approach with correction for GC-content and read mappability.

Iakovishina D, Janoueix-Lerosey I, Barillot E, Regnier M, Boeva V.

Bioinformatics. 2016 Apr 1;32(7):984-92. doi: 10.1093/bioinformatics/btv751.


Joint detection of copy number variations in parent-offspring trios.

Liu Y, Liu J, Lu J, Peng J, Juan L, Zhu X, Li B, Wang Y.

Bioinformatics. 2016 Apr 15;32(8):1130-7. doi: 10.1093/bioinformatics/btv707.


Detrimental effects of duplicate reads and low complexity regions on RNA- and ChIP-seq data.

Dozmorov MG, Adrianto I, Giles CB, Glass E, Glenn SB, Montgomery C, Sivils KL, Olson LE, Iwayama T, Freeman WM, Lessard CJ, Wren JD.

BMC Bioinformatics. 2015;16 Suppl 13:S10. doi: 10.1186/1471-2105-16-S13-S10.


Integrating genetics and epigenetics in breast cancer: biological insights, experimental, computational methods and therapeutic potential.

Cava C, Bertoli G, Castiglioni I.

BMC Syst Biol. 2015 Sep 21;9:62. doi: 10.1186/s12918-015-0211-x. Review.


MMBIRFinder: A Tool to Detect Microhomology-Mediated Break-Induced Replication.

Segar MW, Sakofsky CJ, Malkova A, Liu Y.

IEEE/ACM Trans Comput Biol Bioinform. 2015 Jul-Aug;12(4):799-806. doi: 10.1109/TCBB.2014.2359450.


Improving the Power of Structural Variation Detection by Augmenting the Reference.

Schröder J, Girirajan S, Papenfuss AT, Medvedev P.

PLoS One. 2015 Aug 31;10(8):e0136771. doi: 10.1371/journal.pone.0136771.


Precision medicine in diffuse large B-cell lymphoma: hitting the target.

Vermaat JS, Pals ST, Younes A, Dreyling M, Federico M, Aurer I, Radford J, Kersten MJ; EHA Lymphoma Group, a Scientific Working Group of the European Hematology Association..

Haematologica. 2015 Aug;100(8):989-93. doi: 10.3324/haematol.2015.128371. No abstract available.

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