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Hamanaka et al. 33 (3): 435
.
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120
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Method
:
Multisample motif discovery and visualization for tandem repeats
Yaran Zhang
,
Marc Hulsman
,
Alex Salazar
,
Niccolò Tesi
,
Lydian Knoop
,
Sven van der Lee
,
Sanduni Wijesekera
,
Jana Krizova
,
Erik-Jan Kamsteeg
,
and
Henne Holstege
Genome Res.
April 2025
35
:
850
-
862
;
Published in Advance
November 13, 2024
,
doi:
10.1101/gr.279278.124
...Nijmegen, The Netherlands; 5Alzheimer Center Amsterdam, Neurology, Vrije Universiteit Amsterdam, Amsterdam UMC location VUmc, 1081HV Amsterdam, The Netherlands Corresponding author: h.holstege@amsterdamumc.nlAbstract
Tandem
repeats
(TRs) occupy a significant portion of the
human
and are a source...
Abstract
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Research
:
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
...↵2 Present address: Admera Health, South Plainfield, NJ 07080, USA Corresponding author: andrew.sharp@mssm.eduAbstractShort
tandem
repeats
(STRs) contribute significantly to genetic diversity in
humans
, including disease-causing
variation
. Although the effect of STR
variation
on gene expression has...
Abstract
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Research
:
A novel quantitative trait locus implicates
Msh3
in the propensity for genome-wide short tandem repeat expansions in mice
Mikhail O. Maksimov
,
Cynthia Wu
,
David G. Ashbrook
,
Flavia Villani
,
Vincenza Colonna
,
Nima Mousavi
,
Nichole Ma
,
Lu Lu
,
Jonathan K. Pritchard
,
Alon Goren
,
Robert W. Williams
,
Abraham A. Palmer
,
and
Melissa Gymrek
Genome Res.
May 2023
33
:
689
-
702
;
Published in Advance
May 1, 2023
,
doi:
10.1101/gr.277576.122
...allele, particularly at tetranucleotide
repeats
. Our results suggest an important role for inherited variants in Msh3 in modulating -wide patterns of germline mutations at STRs.Studies of germline and somatic mutations have shown considerable
variation
across
individuals and species in both the rate...
Abstract
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Method
:
Characterizing tandem repeat complexities across long-read sequencing platforms with TREAT and
otter
Niccoló Tesi
,
Alex Salazar
,
Yaran Zhang
,
Sven van der Lee
,
Marc Hulsman
,
Lydian Knoop
,
Sanduni Wijesekera
,
Jana Krizova
,
Anne-Fleur Schneider
,
Maartje Pennings
,
Kristel Sleegers
,
Erik-Jan Kamsteeg
,
Marcel Reinders
,
and
Henne Holstege
Genome Res.
November 2024
34
:
1942
-
1953
;
Published in Advance
October 15, 2024
,
doi:
10.1101/gr.279351.124
...These authors contributed equally to this work. Corresponding authors: n.tesi@amsterdamumc.nl, a.n.salazar@amsterdamumc.nl, h.holstege@amsterdamumc.nlAbstract
Tandem
repeats
(TRs) play important roles in genomic
variation
and disease risk in
humans
. Long-read sequencing allows for the accurate characterization...
Abstract
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Research
:
Genome-wide mapping reveals R-loops associated with centromeric repeats in maize
Yang Liu
,
Qian Liu
,
Handong Su
,
Kunpeng Liu
,
Xue Xiao
,
Wei Li
,
Qianwen Sun
,
James A. Birchler
,
and
Fangpu Han
Genome Res.
August 2021
31
:
1409
-
1418
;
Published in Advance
July 9, 2021
,
doi:
10.1101/gr.275270.121
...characteristics of the R-loop pattern in the maize . We studied the relationships between R-loops and repetitive sequences in maize, such as
tandem
repeats
and TEs. We also provide the first R-loop observation by atomic force microscopy (AFM) in plants.Results
Genome-wide
identification
of R-loops in maize...
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Research
:
Characterizing nucleotide variation and expansion dynamics in human-specific variable number tandem repeats
Meredith M. Course
,
Arvis Sulovari
,
Kathryn Gudsnuk
,
Evan E. Eichler
,
and
Paul N. Valdmanis
Genome Res.
August 2021
31
:
1313
-
1324
;
Published in Advance
July 9, 2021
,
doi:
10.1101/gr.275560.121
..., Jazin E. 2005.
Genome-wide
prediction of
human
VNTRs. Genomics 85: 24–35. doi:10.1016/j.ygeno.2004.10.009 ↵Örd T, Puurand T, Örd D, Annilo T, Möls M, Remm M, Örd T. 2020. A
human
-specific VNTR in the TRIB3 promoter causes gene expression
variation
between individuals. PLoS Genet 16: e1008981. doi:10...
Abstract
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Research
:
Massive variation of short tandem repeats with functional consequences across strains of
Arabidopsis thaliana
Maximilian O. Press
,
Rajiv C. McCoy
,
Ashley N. Hall
,
Joshua M. Akey
,
and
Christine Queitsch
Genome Res.
August 2018
28
:
1169
-
1178
;
Published in Advance
July 3, 2018
,
doi:
10.1101/gr.231753.117
...author: queitsch@uw.eduAbstractShort
tandem
repeat
(STR) mutations may comprise more than half of the mutations in eukaryotic coding DNA, yet STR
variation
is rarely examined as a contributor to complex traits. We assessed this contribution
across
a collection of 96 strains of Arabidopsis thaliana...
Abstract
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Method
:
Accurate typing of short tandem repeats from genome-wide sequencing data and its applications
Arkarachai Fungtammasan
,
Guruprasad Ananda
,
Suzanne E. Hile
,
Marcia Shu-Wei Su
,
Chen Sun
,
Robert Harris
,
Paul Medvedev
,
Kristin Eckert
,
and
Kateryna D. Makova
Genome Res.
May 2015
25
:
736
-
749
;
Published in Advance
March 30, 2015
,
doi:
10.1101/gr.185892.114
...Accurate typing of short
tandem
repeats
from
genome-wide
sequencing data and its applications Arkarachai Fungtammasan 1 , 2 , 3 , 4 , 8 , Guruprasad Ananda 1 , 3 , 4 , 5 , 8 , 9 , Suzanne E. Hile 3 , 6 , Marcia Shu-Wei Su 2 , 3...
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Resource
:
Pangenome-genotyped structural variation improves molecular phenotype mapping in cattle
Alexander S. Leonard
,
Xena M. Mapel
,
and
Hubert Pausch
Genome Res.
February 2024
34
:
300
-
309
;
Published in Advance
February 14, 2024
,
doi:
10.1101/gr.278267.123
...-021-00865-4 ↵Bhati M, Mapel XM, Lloret-Villas A, Pausch H. 2023. Structural variants and short
tandem
repeats
impact gene expression and
splicing
in bovine testis tissue. Genetics 225: 2023.06.07.543773. doi:10.1093/genetics/iyad161 ↵Bray NL, Pimentel H, Melsted P, Pachter L. 2016. Near-optimal probabilistic RNA...
Abstract
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Resource
:
High-coverage nanopore sequencing of samples from the 1000 Genomes Project to build a comprehensive catalog of human genetic variation
Jonas A. Gustafson
,
Sophia B. Gibson
,
Nikhita Damaraju
,
Miranda P.G. Zalusky
,
Kendra Hoekzema
,
David Twesigomwe
,
Lei Yang
,
Anthony A. Snead
,
Phillip A. Richmond
,
Wouter De Coster
,
Nathan D. Olson
,
Andrea Guarracino
,
Qiuhui Li
,
Angela L. Miller
,
Joy Goffena
,
Zachary B. Anderson
,
Sophie H.R. Storz
,
Sydney A. Ward
,
Maisha Sinha
,
Claudia Gonzaga-Jauregui
,
Wayne E. Clarke
,
Anna O. Basile
,
André Corvelo
,
Catherine Reeves
,
Adrienne Helland
,
Rajeeva Lochan Musunuri
,
Mahler Revsine
,
Karynne E. Patterson
,
Cate R. Paschal
,
Christina Zakarian
,
Sara Goodwin
,
Tanner D. Jensen
,
Esther Robb
,
The 1000 Genomes ONT Sequencing Consortium
,
University of Washington Center for Rare Disease Research (UW-CRDR)
,
Genomics Research to Elucidate the Genetics of Rare Diseases (GREGoR) Consortium
,
William Richard McCombie
,
Fritz J. Sedlazeck
,
Justin M. Zook
,
Stephen B. Montgomery
,
Erik Garrison
,
Mikhail Kolmogorov
,
Michael C. Schatz
,
Richard N. McLaughlin, Jr.
,
Harriet Dashnow
,
Michael C. Zody
,
Matt Loose
,
Miten Jain
,
Evan E. Eichler
,
and
Danny E. Miller
Genome Res.
November 2024
34
:
2061
-
2073
;
Published in Advance
October 2, 2024
,
doi:
10.1101/gr.279273.124
...). Furthermore, there was minimal
variation
among the 100 assemblies in interspersed
repeat
content.Among the youngest polymorphic interspersed
repeats
that are too long to resolve with short reads (Chaisson et al. 2019), LINE-1s (∼6000 bp) are the only types that are actively expanding in the
human
. We found...
Abstract
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