Genome Biology

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Genome-wide detection of segmental duplications and potential assembly errors in the human genome sequence

Joseph Cheung, Xavier Estivill*, Razi Khaja, Jeffrey R MacDonald, Ken Lau, Lap-Chee Tsui and Stephen W Scherer*

Genome Biology 2003, 4:R25 doi:10.1186/gb-2003-4-4-r25

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BioMed Central: 13 citations

Method   Open Access

Detection and correction of false segmental duplications caused by genome mis-assembly

David R Kelley, Steven L Salzberg Genome Biology 2010, 11:R28 (10 March 2010)

A method for determining false segmental duplications in vertebrate genomes, thus correcting mis-assemblies and providing more accurate estimates of duplications.

Research article   Open Access

DDX11L: a novel transcript family emerging from human subtelomeric regions

Valerio Costa, Amelia Casamassimi, Roberta Roberto, Fernando Gianfrancesco, Maria R Matarazzo, Michele D'Urso, Maurizio D'Esposito, Mariano Rocchi, Alfredo Ciccodicola BMC Genomics 2009, 10:250 (28 May 2009)

Research article   Open Access

Large-scale inference of the point mutational spectrum in human segmental duplications

Sigve Nakken, Einar A Rødland, Torbjørn Rognes, Eivind Hovig BMC Genomics 2009, 10:43 (22 January 2009)

Research article   Open Access

Evolutionary analysis of the highly dynamic CHEK2 duplicon in anthropoids

Claudia Münch, Stefan Kirsch, António MG Fernandes, Werner Schempp BMC Evolutionary Biology 2008, 8:269 (2 October 2008)

Research article   Open Access

The genomic distribution of intraspecific and interspecific sequence divergence of human segmental duplications relative to human/chimpanzee chromosomal rearrangements

Tomàs Marques-Bonet, Ze Cheng, Xinwei She, Evan E Eichler, Arcadi Navarro BMC Genomics 2008, 9:384 (12 August 2008)

Software   Open Access

Genome assembly forensics: finding the elusive mis-assembly

Adam M Phillippy, Michael C Schatz, Mihai Pop Genome Biology 2008, 9:R55 (14 March 2008)

A collection of software tools is combined for the first time in an automated pipeline for detecting large-scale genome assembly errors and for validating genome assemblies.

Research article   Open Access

Database of Trypanosoma cruzi repeated genes: 20 000 additional gene variants

Erik Arner, Ellen Kindlund, Daniel Nilsson, Fatima Farzana, Marcela Ferella, Martti T Tammi, Björn Andersson BMC Genomics 2007, 8:391 (26 October 2007)

Research article   Open Access

Evolutionary implications of inversions that have caused intra-strand parity in DNA

Kohji Okamura, John Wei, Stephen W Scherer BMC Genomics 2007, 8:160 (11 June 2007)

Research article   Open Access Highly Accessed

Transcriptome coexpression map of human embryonic stem cells

Huai Li, Ying Liu, Soojung Shin, Yu Sun, Jeanne F Loring, Mark P Mattson, Mahendra S Rao, Ming Zhan1 BMC Genomics 2006, 7:103 (2 May 2006)

Expression profiling of human embryonic stem cells (ES) and embryoid bodies (EB), the earliest stage of ES differentiation, identifies specific chromosomal domains with coexpressing neighboring genes that differ between ES and EB in coexpression pattern.

Research article   Open Access

Duplication and relocation of the functional DPY19L2 gene within low copy repeats

Andrew R Carson, Joseph Cheung, Stephen W Scherer BMC Genomics 2006, 7:45 (9 March 2006)

Research article   Open Access

Phylogenomic approaches to common problems encountered in the analysis of low copy repeats: The sulfotransferase 1A gene family example

Michael E Bradley, Steven A Benner BMC Evolutionary Biology 2005, 5:22 (7 March 2005)

Research article   Open Access

Polymorphic segmental duplications at 8p23.1 challenge the determination of individual defensin gene repertoires and the assembly of a contiguous human reference sequence

Stefan Taudien, Petra Galgoczy, Klaus Huse, Kathrin Reichwald, Markus Schilhabel, Karol Szafranski, Atsushi Shimizu, Shuichi Asakawa, Adam Frankish, Ivan F Loncarevic, Nobuyoshi Shimizu, Roman Siddiqui, Matthias Platzer BMC Genomics 2004, 5:92 (10 December 2004)

Research   Open Access Highly Accessed

Recent segmental and gene duplications in the mouse genome

Joseph Cheung, Michael D Wilson, Junjun Zhang, Razi Khaja, Jeffrey R MacDonald, Henry HQ Heng, Ben F Koop, Stephen W Scherer Genome Biology 2003, 4:R47 (9 July 2003)

BLAST-based computational heuristics were used to identify large and recent segmental duplications in the mouse genome sequence. Here a database of recently duplicated regions of the mouse genome is presented.