The mutational burden of acral melanoma revealed by whole-genome sequencing and comparative analysis

2014 ◽  
Vol 27 (5) ◽  
pp. 835-838 ◽  
Author(s):  
Simon J. Furney ◽  
Samra Turajlic ◽  
Gordon Stamp ◽  
J. Meirion Thomas ◽  
Andrew Hayes ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Acral Melanoma ◽  
Mutational Burden

scholarly journals Long-read whole genome sequencing and comparative analysis of six strains of the human pathogen Orientia tsutsugamushi

2018 ◽  
Vol 12 (6) ◽  
pp. e0006566 ◽  
Author(s):  
Elizabeth M. Batty ◽  
Suwittra Chaemchuen ◽  
Stuart Blacksell ◽  
Allen L. Richards ◽  
Daniel Paris ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome ◽  
Orientia Tsutsugamushi ◽  
Human Pathogen ◽  
Long Read

scholarly journals Whole-genome sequencing of acral melanoma reveals genomic complexity and diversity

2020 ◽  
Vol 11 (1) ◽  
Author(s):  
Felicity Newell ◽  
James S. Wilmott ◽  
Peter A. Johansson ◽  
Katia Nones ◽  
Venkateswar Addala ◽  
...  
Keyword(s):  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Genome Duplication ◽  
Structural Rearrangement ◽  
Whole Genome ◽  
Rare Form ◽  
Acral Melanoma ◽  
Mutational Signature ◽  
Genomic Complexity ◽  
Genomic Landscape

Abstract To increase understanding of the genomic landscape of acral melanoma, a rare form of melanoma occurring on palms, soles or nail beds, whole genome sequencing of 87 tumors with matching transcriptome sequencing for 63 tumors was performed. Here we report that mutational signature analysis reveals a subset of tumors, mostly subungual, with an ultraviolet radiation signature. Significantly mutated genes are BRAF, NRAS, NF1, NOTCH2, PTEN and TYRP1. Mutations and amplification of KIT are also common. Structural rearrangement and copy number signatures show that whole genome duplication, aneuploidy and complex rearrangements are common. Complex rearrangements occur recurrently and are associated with amplification of TERT, CDK4, MDM2, CCND1, PAK1 and GAB2, indicating potential therapeutic options.

Whole genome sequencing of lamb rotavirus and comparative analysis with other mammalian rotaviruses

Virus Genes ◽  
2009 ◽  
Vol 38 (2) ◽  
pp. 302-310 ◽  
Author(s):  
Yanjun Chen ◽  
Weiwen Zhu ◽  
Shuo Sui ◽  
Yuxin Yin ◽  
Songnian Hu ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Whole Genome Sequencing ◽  
Genome Sequencing ◽  
Whole Genome

Comparative analysis of whole genome sequencing-based telomere length measurement techniques

Methods ◽  
2017 ◽  
Vol 114 ◽  
pp. 4-15 ◽  
Author(s):  
Michael Lee ◽  
Christine E. Napier ◽  
Sile F. Yang ◽  
Jonathan W. Arthur ◽  
Roger R. Reddel ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Whole Genome Sequencing ◽  
Telomere Length ◽  
Genome Sequencing ◽  
Measurement Techniques ◽  
Length Measurement ◽  
Whole Genome

scholarly journals Corrigendum: A comparative analysis of whole genome sequencing of esophageal adenocarcinoma pre- and post-chemotherapy

2017 ◽  
Vol 27 (10) ◽  
pp. 1782-1782
Author(s):  
Ayesha Noorani ◽  
Jan Bornschein ◽  
Andy G. Lynch ◽  
Maria Secrier ◽  
Achilleas Achilleos ◽  
...  
Keyword(s):  
Comparative Analysis ◽  
Whole Genome Sequencing ◽  
Esophageal Adenocarcinoma ◽  
Genome Sequencing ◽  
Whole Genome
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