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Fujimoto et al. 30 (3): 334
.
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Research
:
C. elegans
whole-genome sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency
Bettina Meier
,
Susanna L. Cooke
,
Joerg Weiss
,
Aymeric P. Bailly
,
Ludmil B. Alexandrov
,
John Marshall
,
Keiran Raine
,
Mark Maddison
,
Elizabeth Anderson
,
Michael R. Stratton
,
Anton Gartner
,
and
Peter J. Campbell
Genome Res.
October 2014
24
:
1624
-
1636
;
Published in Advance
July 16, 2014
,
doi:
10.1101/gr.175547.114
...C. elegans
whole-genome
sequencing reveals mutational signatures related to carcinogens and DNA repair deficiency Bettina Meier 1 , 6 , Susanna L. Cooke 2 , 6 , Joerg Weiss 1 , Aymeric P. Bailly 1 , 3 , Ludmil B. Alexandrov...
Abstract
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Research
:
Whole genome sequencing of matched primary and metastatic acral melanomas
Samra Turajlic
,
Simon J. Furney
,
Maryou B. Lambros
,
Costas Mitsopoulos
,
Iwanka Kozarewa
,
Felipe C. Geyer
,
Alan MacKay
,
Jarle Hakas
,
Marketa Zvelebil
,
Christopher J. Lord
,
Alan Ashworth
,
Meirion Thomas
,
Gordon Stamp
,
James Larkin
,
Jorge S. Reis-Filho
,
and
Richard Marais
Genome Res.
February 2012
22
:
196
-
207
;
Published in Advance
December 19, 2011
,
doi:
10.1101/gr.125591.111
...
Whole
genome
sequencing of matched primary and metastatic acral melanomas Samra Turajlic 1 , 8 , Simon J. Furney 1 , 8 , Maryou B. Lambros 2 , Costas Mitsopoulos 3 , Iwanka Kozarewa 4 , Felipe C. Geyer 2 , Alan MacKay 2...
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Research
:
Genome scanning of Amazonian
Plasmodium falciparum
shows subtelomeric instability and clindamycin-resistant parasites
Neekesh V. Dharia
,
David Plouffe
,
Selina E.R. Bopp
,
Gonzalo E. González-Páez
,
Carmen Lucas
,
Carola Salas
,
Valeria Soberon
,
Badry Bursulaya
,
Tadeusz J. Kochel
,
David J. Bacon
,
and
Elizabeth A. Winzeler
Genome Res.
November 2010
20
:
1534
-
1544
;
Published in Advance
September 9, 2010
,
doi:
10.1101/gr.105163.110
...1;Dharia et al. 2009). First, 10–15mg of
whole
genomic
DNA from parasites grown in leukocyte-depleted red cells from each Peruvian isolate was fragmented with DNase I, end-labeled, and hybridized to a tiling microarray that covers ;90% of coding
regions
, which comprise 53% of the and 60...
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Method
:
MIPSTR: a method for multiplex genotyping of germline and somatic STR variation across many individuals
Keisha D. Carlson
,
Peter H. Sudmant
,
Maximilian O. Press
,
Evan E. Eichler
,
Jay Shendure
,
and
Christine Queitsch
Genome Res.
May 2015
25
:
750
-
761
;
Published in Advance
February 6, 2015
,
doi:
10.1101/gr.182212.114
...known as
microsatellite
instability
(MSI), has a long history as a biomarker for certain colorectal cancers, more recently also for endometrial cancers (Boland et al. 1998; Kim et al. 2013). In fact, a recent study used exome sequencing data (∼20× coverage, 100 bp reads) (cf. Supplemental Fig. 1...
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Research
:
Confounding factors in assessing the enriched expression of somatic mutant alleles in bulk tumor samples
Kohei Hagiwara
,
Andrew Thrasher
,
Nadezhda V. Terekhanova
,
and
Jinghui Zhang
Genome Res.
March 4, 2026
;
Published in Advance
March 4, 2026
,
doi:
10.1101/gr.281003.125
...novo
indel
detection because DNA-based
indel
detection is known to have a limited sensitivity of 40%–50% (Fig. 1, application workflow; Alioto et al. 2015; The ICGC/TCGA Pan-Cancer Analysis of
Whole
Genomes
Consortium 2020). We also evaluated the effectiveness of this approach for mutations rated...
Abstract
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Research
:
Evolution and genomic signatures of spontaneous somatic mutation in
Drosophila
intestinal stem cells
Nick Riddiford
,
Katarzyna Siudeja
,
Marius van den Beek
,
Benjamin Boumard
,
and
Allison J. Bardin
Genome Res.
August 2021
31
:
1419
-
1432
;
Published in Advance
June 24, 2021
,
doi:
10.1101/gr.268441.120
...; The ICGC/TCGA Pan-Cancer Analysis of
Whole
Genomes
Consortium 2020). These initiating mutations are thought to arise in normal cells and can therefore provide key insights into the mutational processes at play in precancerous states. Large-scale sequencing projects have detailed the mutational burdens...
Abstract
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Method
:
lobSTR: A short tandem repeat profiler for personal genomes
Melissa Gymrek
,
David Golan
,
Saharon Rosset
,
and
Yaniv Erlich
Genome Res.
June 2012
22
:
1154
-
1162
;
Published in Advance
April 20, 2012
,
doi:
10.1101/gr.135780.111
...individual, by tracing Mendelian inheritance patterns in STR alleles in
whole-genome
sequencing of a HapMap trio, and by comparing lobSTR results to traditional molecular techniques. Encouraged by the speed and accuracy of lobSTR, we used the algorithm to conduct a
comprehensive
survey of STR variations...
Abstract
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ARTICLE
:
Comparative genome sequencing of
Drosophila pseudoobscura
: Chromosomal, gene, and
cis
-element evolution
Stephen Richards
,
Yue Liu
,
Brian R. Bettencourt
,
Pavel Hradecky
,
Stan Letovsky
,
Rasmus Nielsen
,
Kevin Thornton
,
Melissa J. Hubisz
,
Rui Chen
,
Richard P. Meisel
,
Olivier Couronne
,
Sujun Hua
,
Mark A. Smith
,
Peili Zhang
,
Jing Liu
,
Harmen J. Bussemaker
,
Marinus F. van Batenburg
,
Sally L. Howells
,
Steven E. Scherer
,
Erica Sodergren
,
Beverly B. Matthews
,
Madeline A. Crosby
,
Andrew J. Schroeder
,
Daniel Ortiz-Barrientos
,
Catharine M. Rives
,
Michael L. Metzker
,
Donna M. Muzny
,
Graham Scott
,
David Steffen
,
David A. Wheeler
,
Kim C. Worley
,
Paul Havlak
,
K. James Durbin
,
Amy Egan
,
Rachel Gill
,
Jennifer Hume
,
Margaret B. Morgan
,
George Miner
,
Cerissa Hamilton
,
Yanmei Huang
,
Lenée Waldron
,
Daniel Verduzco
,
Kerstin P. Clerc-Blankenburg
,
Inna Dubchak
,
Mohamed A.F. Noor
,
Wyatt Anderson
,
Kevin P. White
,
Andrew G. Clark
,
Stephen W. Schaeffer
,
William Gelbart
,
George M. Weinstock
,
and
Richard A. Gibbs
Genome Res.
January 2005
15
:
1
-
18
;
doi:
10.1101/gr.3059305
....genome.org. The annotated
whole
genome
project has been deposited into DDBJ/EMBL/GenBank under the project accession AADE00000000. The version described in this paper is the first version, AADE01000000. The sequences of the proximal and distal Arrowhead breakpoints have been deposited in GenBank with accession nos. AY...
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Cross-modality translation in single-cell multiomics
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Somatic mutant alleles in bulk tumor samples
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