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Taylor et al. 14 (4): 555
.
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274
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:
An integrative TAD catalog in lymphoblastoid cell lines discloses the functional impact of deletions and insertions in human genomes
Chong Li
,
Marc Jan Bonder
,
Sabriya Syed
,
Matthew Jensen
,
Human Genome Structural Variation Consortium (HGSVC)
,
HGSVC Functional Analysis Working Group
,
Mark B. Gerstein
,
Michael C. Zody
,
Mark J.P. Chaisson
,
Michael E. Talkowski
,
Tobias Marschall
,
Jan O. Korbel
,
Evan E. Eichler
,
Charles Lee
,
and
Xinghua Shi
Genome Res.
December 2024
34
:
2304
-
2318
;
Published in Advance
December 5, 2024
,
doi:
10.1101/gr.279419.124
...associating domains (TADs), and loops. TAD boundaries, separating adjacent TADs, have been found to be well conserved across
mammalian
species and more evolutionarily constrained than TADs themselves. Recent studies show that structural variants (SVs) can modify 3D s through the disruption of TADs, which play...
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:
Diverse evolutionary trajectories of mitocoding DNA in mammalian and avian nuclear genomes
Yu-Chi Chen
,
David L.J. Vendrami
,
Maximilian L. Huber
,
Luisa E.Y. Handel
,
Christopher R. Cooney
,
Joseph I. Hoffman
,
and
Toni I. Gossmann
Genome Res.
June 2025
35
:
1313
-
1324
;
Published in Advance
March 31, 2025
,
doi:
10.1101/gr.279428.124
...impact of NUMT integration, we identified mitochondrial
insertions
in the nuclear s of more than 1000
mammalian
and avian species. Specifically, we analyzed 680
mammalian
and 458 avian s with both nuclear and mitochondrial assemblies available from public databases. Using a previously published...
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:
Natural genetic variation caused by small insertions and deletions in the human genome
Ryan E. Mills
,
W. Stephen Pittard
,
Julienne M. Mullaney
,
Umar Farooq
,
Todd H. Creasy
,
Anup A. Mahurkar
,
David M. Kemeza
,
Daniel S. Strassler
,
Chris P. Ponting
,
Caleb Webber
,
and
Scott E. Devine
Genome Res.
June 2011
21
:
830
-
839
;
Published in Advance
April 1, 2011
,
doi:
10.1101/gr.115907.110
...Natural genetic variation caused by small
insertions
and
deletions
in the human
genome
Ryan E. Mills 1 , 8 , W. Stephen Pittard 2 , Julienne M. Mullaney 3 , 4 , Umar Farooq 3 , Todd H. Creasy 3 , Anup A. Mahurkar 3 , David...
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:
Evolutionary expansion of DNA hypomethylation in the mammalian germline genome
Jianghan Qu
,
Emily Hodges
,
Antoine Molaro
,
Pascal Gagneux
,
Matthew D. Dean
,
Gregory J. Hannon
,
and
Andrew D. Smith
Genome Res.
February 2018
28
:
145
-
158
;
Published in Advance
December 19, 2017
,
doi:
10.1101/gr.225896.117
...methylation has substantially impacted the large-scale evolution of
mammalian
s. Spontaneous deamination elevates the mutation rate at methylated cytosines (Bird 1980).
Consequently
, germline DNA methylation profiles have shaped the CpG landscape of
mammalian
s (Cohen et al. 2011), resulting in the CpG island...
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:
Ride the wavelet: A multiscale analysis of genomic contexts flanking small insertions and deletions
Erika M. Kvikstad
,
Francesca Chiaromonte
,
and
Kateryna D. Makova
Genome Res.
July 2009
19
:
1153
-
1164
;
Published in Advance
June 5, 2009
,
doi:
10.1101/gr.088922.108
...Ride the wavelet: A multiscale analysis of
genomic
contexts flanking small
insertions
and
deletions
Erika M. Kvikstad 1 , 2 , Francesca Chiaromonte 1 , 3 and Kateryna D. Makova 1 , 2 , 4 1 Center for Comparative
Genomics
and Bioinformatics...
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:
Direct RNA nanopore sequencing of full-length coronavirus genomes provides novel insights into structural variants and enables modification analysis
Adrian Viehweger
,
Sebastian Krautwurst
,
Kevin Lamkiewicz
,
Ramakanth Madhugiri
,
John Ziebuhr
,
Martin Hölzer
,
and
Manja Marz
Genome Res.
September 2019
29
:
1545
-
1554
;
Published in Advance
August 22, 2019
,
doi:
10.1101/gr.247064.118
...haplotypes.Coronaviruses (subfamily Coronavirinae, family Coronaviridae, order Nidovirales) are enveloped positive-sense (+) single-stranded (ss) RNA viruses that infect a variety of
mammalian
and avian hosts and are of significant medical and economic importance, as illustrated by recent zoonotic...
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:
Complete avian malaria parasite genomes reveal features associated with lineage-specific evolution in birds and mammals
Ulrike Böhme
,
Thomas D. Otto
,
James A. Cotton
,
Sascha Steinbiss
,
Mandy Sanders
,
Samuel O. Oyola
,
Antoine Nicot
,
Sylvain Gandon
,
Kailash P. Patra
,
Colin Herd
,
Ellen Bushell
,
Katarzyna K. Modrzynska
,
Oliver Billker
,
Joseph M. Vinetz
,
Ana Rivero
,
Chris I. Newbold
,
and
Matthew Berriman
Genome Res.
April 2018
28
:
547
-
560
;
Published in Advance
March 2, 2018
,
doi:
10.1101/gr.218123.116
...—with their richer metabolism and transport—is easier to evolve than development in enucleated
mammalian
erythrocytes, it is tempting to speculate that these parasites more closely resemble the ancestral state.In this study, we describe the sequence, annotation, and comparative
genomics
of Plasmodium relictum SGS1...
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:
Long terminal repeats power evolution of genes and gene expression programs in mammalian oocytes and zygotes
Vedran Franke
,
Sravya Ganesh
,
Rosa Karlic
,
Radek Malik
,
Josef Pasulka
,
Filip Horvat
,
Maja Kuzman
,
Helena Fulka
,
Marketa Cernohorska
,
Jana Urbanova
,
Eliska Svobodova
,
Jun Ma
,
Yutaka Suzuki
,
Fugaku Aoki
,
Richard M. Schultz
,
Kristian Vlahovicek
,
and
Petr Svoboda
Genome Res.
August 2017
27
:
1384
-
1394
;
Published in Advance
May 18, 2017
,
doi:
10.1101/gr.216150.116
...Retrotransposons are “copy-and-paste”
insertional
mutagens that substantially contribute to
mammalian
content. Retrotransposons often carry long terminal repeats (LTRs) for retrovirus-like reverse transcription and integration into the . We report an extraordinary impact of a group of LTRs from the
mammalian
...
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:
Repeat associated mechanisms of genome evolution and function revealed by the
Mus caroli
and
Mus pahari
genomes
David Thybert
,
Maša Roller
,
Fábio C.P. Navarro
,
Ian Fiddes
,
Ian Streeter
,
Christine Feig
,
David Martin-Galvez
,
Mikhail Kolmogorov
,
Václav Janoušek
,
Wasiu Akanni
,
Bronwen Aken
,
Sarah Aldridge
,
Varshith Chakrapani
,
William Chow
,
Laura Clarke
,
Carla Cummins
,
Anthony Doran
,
Matthew Dunn
,
Leo Goodstadt
,
Kerstin Howe
,
Matthew Howell
,
Ambre-Aurore Josselin
,
Robert C. Karn
,
Christina M. Laukaitis
,
Lilue Jingtao
,
Fergal Martin
,
Matthieu Muffato
,
Stefanie Nachtweide
,
Michael A. Quail
,
Cristina Sisu
,
Mario Stanke
,
Klara Stefflova
,
Cock Van Oosterhout
,
Frederic Veyrunes
,
Ben Ward
,
Fengtang Yang
,
Golbahar Yazdanifar
,
Amonida Zadissa
,
David J. Adams
,
Alvis Brazma
,
Mark Gerstein
,
Benedict Paten
,
Son Pham
,
Thomas M. Keane
,
Duncan T. Odom
,
and
Paul Flicek
Genome Res.
April 2018
28
:
448
-
459
;
Published in Advance
March 21, 2018
,
doi:
10.1101/gr.234096.117
...species can exhibit large-scale structural changes ranging from lineage-specific retrotransposon
insertions
to karyotype differences. The mechanisms driving these changes may vary between
mammalian
lineages, and the reasons for these differences remain mostly unknown. For example, the rate of chromosomal...
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:
Novel determinants of mammalian primary microRNA processing revealed by systematic evaluation of hairpin-containing transcripts and human genetic variation
Christine Roden
,
Jonathan Gaillard
,
Shaveta Kanoria
,
William Rennie
,
Syndi Barish
,
Jijun Cheng
,
Wen Pan
,
Jun Liu
,
Chris Cotsapas
,
Ye Ding
,
and
Jun Lu
Genome Res.
March 2017
27
:
374
-
384
;
Published in Advance
January 13, 2017
,
doi:
10.1101/gr.208900.116
...in the are incompletely understood. By developing a computational pipeline to systematically evaluate 30 structural and sequence features of
mammalian
RNA hairpins, we report several new rules that are preferentially utilized in miRNA hairpins and govern efficient pri-miRNA processing. We propose that a hairpin stem...
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