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Narlikar et al. 20 (3): 381
.
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202
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Genome-wide identification of tandem repeats associated with splicing variation across 49 tissues in humans
Kohei Hamanaka
,
Daisuke Yamauchi
,
Eriko Koshimizu
,
Kei Watase
,
Kaoru Mogushi
,
Kinya Ishikawa
,
Hidehiro Mizusawa
,
Naomi Tsuchida
,
Yuri Uchiyama
,
Atsushi Fujita
,
Kazuharu Misawa
,
Takeshi Mizuguchi
,
Satoko Miyatake
,
and
Naomichi Matsumoto
Genome Res.
March 2023
33
:
435
-
447
;
Published in Advance
March 27, 2023
,
doi:
10.1101/gr.277335.122
...map spl-TRs in a -wide manner across tissues throughout the whole body by using the Genotype-Tissue expression (GTEx) v8 data set, a population-scale resource of whole- sequencing (WGS) and RNA sequencing (RNA-seq).Results
Genome-wide
identification of spl-TRs across 49 tissuesWe discovered cis spl...
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:
Genome-wide evaluation of the effect of short tandem repeat variation on local DNA methylation
Alejandro Martin-Trujillo
,
Paras Garg
,
Nihir Patel
,
Bharati Jadhav
,
and
Andrew J. Sharp
Genome Res.
February 2023
33
:
184
-
196
;
Published in Advance
December 28, 2022
,
doi:
10.1101/gr.277057.122
...these questions, we first analyzed two independent data sets comprising PCR-free whole- sequencing (WGS) and -wide DNA methylation levels derived from whole-blood samples in 245 (
discovery
cohort) and 484 individuals (replication cohort). Using genotypes for 131,635 polymorphic STRs derived from WGS using Hip...
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:
Genome-wide dynamics of RNA synthesis, processing, and degradation without RNA metabolic labeling
Mattia Furlan
,
Eugenia Galeota
,
Nunzio Del Gaudio
,
Erik Dassi
,
Michele Caselle
,
Stefano de Pretis
,
and
Mattia Pelizzola
Genome Res.
October 2020
30
:
1492
-
1507
;
Published in Advance
September 25, 2020
,
doi:
10.1101/gr.260984.120
...under specific conditions. Genes altered in T cell samples were associated with the regulation of T cell number and proliferation and with immunodeficiency. Genes altered in
heart
samples were associated with cardiac hypertrophy, abnormal contractility, and cardiomyopathy. Indeed, a subset...
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:
Genome-wide analysis of polymerase III–transcribed
Alu
elements suggests cell-type–specific enhancer function
Xiao-Ou Zhang
,
Thomas R. Gingeras
,
and
Zhiping Weng
Genome Res.
September 2019
29
:
1402
-
1414
;
Published in Advance
August 14, 2019
,
doi:
10.1101/gr.249789.119
...window Figure 1.
Genome-wide
identification of expressed Alu elements using RAMPAGE data. (A) A computational pipeline to call RAMPAGE peaks and annotate expressed Alu elements. Paired-end RAMPAGE reads (R1 and R2, black; N, read pairs in total) with uniquely mapping R2 reads were first clustered to call...
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:
Enhancers display constrained sequence flexibility and context-specific modulation of motif function
Franziska Reiter
,
Bernardo P. de Almeida
,
and
Alexander Stark
Genome Res.
March 2023
33
:
346
-
358
;
Published in Advance
March 20, 2023
,
doi:
10.1101/gr.277246.122
...Vienna, Austria; 3Medical University of Vienna, Vienna BioCenter, 1030 Vienna, Austria ↵4 These authors contributed equally to this work. Corresponding author: stark@starklab.orgAbstractThe information about when and where each gene is to be expressed is mainly encoded in the DNA sequence of
enhancers
...
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Genome-wide identification and characterization of transcription start sites and promoters in the tunicate
Ciona intestinalis
Rui Yokomori
,
Kotaro Shimai
,
Koki Nishitsuji
,
Yutaka Suzuki
,
Takehiro G. Kusakabe
,
and
Kenta Nakai
Genome Res.
January 2016
26
:
140
-
150
;
Published in Advance
December 14, 2015
,
doi:
10.1101/gr.184648.114
...
Genome-wide
identification and characterization of transcription start sites and promoters in the tunicate Ciona intestinalis Rui Yokomori 1 , Kotaro Shimai 2 , Koki Nishitsuji 3 , Yutaka Suzuki 1 , Takehiro G. Kusakabe 2 , 4...
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:
Genome-wide specificity of DNA binding, gene regulation, and chromatin remodeling by TALE- and CRISPR/Cas9-based transcriptional activators
Lauren R. Polstein
,
Pablo Perez-Pinera
,
D. Dewran Kocak
,
Christopher M. Vockley
,
Peggy Bledsoe
,
Lingyun Song
,
Alexias Safi
,
Gregory E. Crawford
,
Timothy E. Reddy
,
and
Charles A. Gersbach
Genome Res.
August 2015
25
:
1158
-
1169
;
Published in Advance
May 29, 2015
,
doi:
10.1101/gr.179044.114
...-based activators (Fig. 2D).View larger version: In this window In a new window Figure 2.
Genome-wide
specificity of TALE-VP64 and dCas9-VP64-mediated gene activation. RNA-seq was performed on samples co-transfected with a set of four TALE-VP64 expression plasmids targeting either IL1RN (A) or HBG1/2 (C...
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:
Genome-wide phosphoacetylation of histone H3 at
Drosophila
enhancers and promoters
Wendy A. Kellner
,
Edward Ramos
,
Kevin Van Bortle
,
Naomi Takenaka
,
and
Victor G. Corces
Genome Res.
June 2012
22
:
1081
-
1088
;
Published in Advance
April 16, 2012
,
doi:
10.1101/gr.136929.111
...
Genome-wide
phosphoacetylation of histone H3 at Drosophila
enhancers
and promoters Wendy A. Kellner , Edward Ramos , Kevin Van Bortle , Naomi Takenaka and Victor G. Corces 1 Department of Biology, Emory University, Atlanta...
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:
Advancing genomic technologies and clinical awareness accelerates discovery of disease-associated tandem repeat sequences
Terence Gall-Duncan
,
Nozomu Sato
,
Ryan K.C. Yuen
,
and
Christopher E. Pearson
Genome Res.
January 2022
32
:
1
-
27
;
Published in Advance
December 29, 2021
,
doi:
10.1101/gr.269530.120
...to begin to
enhance
identifying disease-causing TR expansions (Fig. 1).Bioinformatic algorithms are unleashing the potential of NGS for repeat disease
discovery
Application of NGS approaches in this field was first published in 2011 in one of two papers that reported the
discovery
of the GGGGCC repeat...
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:
Genome-wide identification of conserved regulatory function in diverged sequences
Leila Taher
,
David M. McGaughey
,
Samantha Maragh
,
Ivy Aneas
,
Seneca L. Bessling
,
Webb Miller
,
Marcelo A. Nobrega
,
Andrew S. McCallion
,
and
Ivan Ovcharenko
Genome Res.
July 2011
21
:
1139
-
1149
;
Published in Advance
May 31, 2011
,
doi:
10.1101/gr.119016.110
...
Genome-wide
identification of conserved regulatory function in diverged sequences Leila Taher 1 , David M. McGaughey 2 , Samantha Maragh 2 , 3 , Ivy Aneas 4 , Seneca L. Bessling 2 , Webb Miller 5 , Marcelo A. Nobrega 4...
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