Literature DB >> 23129301

HD-CNV: hotspot detector for copy number variants.

Jenna L Butler1, Marjorie Elizabeth Osborne Locke, Kathleen A Hill, Mark Daley.   

Abstract

SUMMARY: Copy number variants (CNVs) are a major source of genetic variation. Comparing CNVs between samples is important in elucidating their potential effects in a wide variety of biological contexts. HD-CNV (hotspot detector for copy number variants) is a tool for downstream analysis of previously identified CNV regions from multiple samples, and it detects recurrent regions by finding cliques in an interval graph generated from the input. It creates a unique graphical representation of the data, as well as summary spreadsheets and UCSC (University of California, Santa Cruz) Genome Browser track files. The interval graph, when viewed with other software or by automated graph analysis, is useful in identifying genomic regions of interest for further study.
AVAILABILITY AND IMPLEMENTATION: HD-CNV is an open source Java code and is freely available, with tutorials and sample data from http://daleylab.org. CONTACT: jcamer7@uwo.ca

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Year:  2012        PMID: 23129301     DOI: 10.1093/bioinformatics/bts650

Source DB:  PubMed          Journal:  Bioinformatics        ISSN: 1367-4803            Impact factor:   6.937


  10 in total

1.  Global patterns of large copy number variations in the human genome reveal complexity in chromosome organization.

Authors:  Avinash M Veerappa; Raviraj V Suresh; Sangeetha Vishweswaraiah; Kusuma Lingaiah; Megha Murthy; Dinesh S Manjegowda; Prakash Padakannaya; Nallur B Ramachandra
Journal:  Genet Res (Camb)       Date:  2015-09-22       Impact factor: 1.588

2.  The Genomic Substrate for Adaptive Radiation: Copy Number Variation across 12 Tribes of African Cichlid Species.

Authors:  Joshua J Faber-Hammond; Etienne Bezault; David H Lunt; Domino A Joyce; Suzy C P Renn
Journal:  Genome Biol Evol       Date:  2019-10-01       Impact factor: 3.416

3.  Genomic copy number variation in Mus musculus.

Authors:  M Elizabeth O Locke; Maja Milojevic; Susan T Eitutis; Nisha Patel; Andrea E Wishart; Mark Daley; Kathleen A Hill
Journal:  BMC Genomics       Date:  2015-07-04       Impact factor: 3.969

4.  Biological relevance of CNV calling methods using familial relatedness including monozygotic twins.

Authors:  Christina A Castellani; Melkaye G Melka; Andrea E Wishart; M Elizabeth O Locke; Zain Awamleh; Richard L O'Reilly; Shiva M Singh
Journal:  BMC Bioinformatics       Date:  2014-04-21       Impact factor: 3.169

5.  Extensive load of somatic CNVs in the human placenta.

Authors:  Laura Kasak; Kristiina Rull; Pille Vaas; Pille Teesalu; Maris Laan
Journal:  Sci Rep       Date:  2015-02-10       Impact factor: 4.379

6.  Post-zygotic genomic changes in glutamate and dopamine pathway genes may explain discordance of monozygotic twins for schizophrenia.

Authors:  C A Castellani; M G Melka; J L Gui; A J Gallo; R L O'Reilly; S M Singh
Journal:  Clin Transl Med       Date:  2017-11-28

7.  Copy number variation profile in the placental and parental genomes of recurrent pregnancy loss families.

Authors:  Laura Kasak; Kristiina Rull; Siim Sõber; Maris Laan
Journal:  Sci Rep       Date:  2017-03-27       Impact factor: 4.379

8.  Unravelling the complexity of human olfactory receptor repertoire by copy number analysis across population using high resolution arrays.

Authors:  Avinash M Veerappa; Sangeetha Vishweswaraiah; Kusuma Lingaiah; Megha Murthy; Dinesh S Manjegowda; Radhika Nayaka; Nallur B Ramachandra
Journal:  PLoS One       Date:  2013-07-03       Impact factor: 3.240

9.  Copy number variations burden on miRNA genes reveals layers of complexities involved in the regulation of pathways and phenotypic expression.

Authors:  Avinash M Veerappa; Megha N Murthy; Sangeetha Vishweswaraiah; Kusuma Lingaiah; Raviraj V Suresh; Somanna Ajjamada Nachappa; Nelchi Prashali; Sangeetha Nuggehalli Yadav; Manjula Arsikere Srikanta; Dinesh S Manjegowda; Keshava B Seshachalam; Nallur B Ramachandra
Journal:  PLoS One       Date:  2014-02-28       Impact factor: 3.240

10.  Genome-wide copy number variation (CNV) detection in Nelore cattle reveals highly frequent variants in genome regions harboring QTLs affecting production traits.

Authors:  Joaquim Manoel da Silva; Poliana Fernanda Giachetto; Luiz Otávio da Silva; Leandro Carrijo Cintra; Samuel Rezende Paiva; Michel Eduardo Beleza Yamagishi; Alexandre Rodrigues Caetano
Journal:  BMC Genomics       Date:  2016-06-13       Impact factor: 3.969

  10 in total

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