Searching journal content for articles similar to Course et al. 31 (8): 1313.

Displaying results 1-10 of 43

For checked items

view abstracts
download to citation manager

Select this article
Method: Accurate detection of tandem repeats from error-prone sequences with EquiRep
- Zhezheng Song,
- Tasfia Zahin,
- Xiang Li,
- and Mingfu Shao
Genome Res. December 2025 35: 2714-2721; Published in Advance August 21, 2025, doi:10.1101/gr.280750.125
.... Tandem repeats in human disorders: mechanisms and evolution. Front Biosci 13: 4467–4484. doi:10.2741/3017 ↵Song JH, Lowe CB, Kingsley DM. 2018. Characterization of a human-specific tandem repeat associated with bipolar disorder and schizophrenia. Am J Hum Genet 103: 421–430. doi:10.1016/j.ajhg.2018...
OPEN ACCESS ARTICLE
Select this article
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
...of repeats is tandem repeats (TRs), which are DNA sequences characterized by the contiguous repetition of at least one nucleotide, accounting for ∼6%–8% of the human (Cui et al. 2024; English et al. 2024; Rajan-Babu et al. 2024). TRs are broadly classified based on the size of their repetitive motif: TRs...
OPEN ACCESS ARTICLE
Select this article
Method: Estimating the size of long tandem repeat expansions from short reads with ScatTR
- Rashid Al-Abri and
- Gamze Gürsoy
Genome Res. December 2025 35: 2701-2713; Published in Advance August 21, 2025, doi:10.1101/gr.280563.125
...with lengths that greatly exceed typical sequencing fragment sizes. When applied to data from the 1000 Genomes Project, ScatTR detects potential large TR expansions that other methods missed, highlighting its ability to better characterize -wide TR variation.Tandem repeats (TRs) are consecutively repeated...
OPEN ACCESS ARTICLE
Select this article
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
...be in complex copy-number polymorphic regions of the , and thus potential artifacts because of their proximity to a segdup. Of the SVs that were not fully within, partially within, or within 1000 bp of a segdup, 119,255 (46.5% of the remaining SVs) overlap a variable number tandem repeat (VNTR) region. Analysis...
OPEN ACCESS ARTICLE
Select this article
Research: Non-Mendelian inheritance patterns and extreme deviation rates of CGG repeats in autism
- Dale J. Annear,
- Geert Vandeweyer,
- Alba Sanchis-Juan,
- F. Lucy Raymond,
- and R. Frank Kooy
Genome Res. November/December 2022 32: 1967-1980; Published in Advance November 9, 2022, doi:10.1101/gr.277011.122
...been implicated in gene expression, morphological variation, and evolution (Fondon and Garner 2004; Sperling and Li 2013; Fotsing et al. 2019). However, the mechanism behind repeat variation is typically attributed to slipped strand mispairing owing to the simple and highly repetitive nucleotide...
OPEN ACCESS ARTICLE
Select this article
Review: 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
...but will be in forthcoming gapless long-read references. Repeat motif size can be a single nucleotide to kilobases/unit. At a given locus, repeat motif sequence purity can vary with consequence. Pathogenic repeats can be “insertions” within nonpathogenic TRs. Expansions, contractions, and somatic length variations of TRs...
Select this article
Research: A hidden layer of structural variation in transposable elements reveals potential genetic modifiers in human disease-risk loci
- Elisabeth J. van Bree,
- Rita L.F.P. Guimarães,
- Mischa Lundberg,
- Elena R. Blujdea,
- Jimi L. Rosenkrantz,
- Fred T.G. White,
- Josse Poppinga,
- Paula Ferrer-Raventós,
- Anne-Fleur E. Schneider,
- Isabella Clayton,
- David Haussler,
- Marcel J.T. Reinders,
- Henne Holstege,
- Adam D. Ewing,
- Colette Moses,
- and Frank M.J. Jacobs
Genome Res. April 2022 32: 656-670; Published in Advance March 24, 2022, doi:10.1101/gr.275515.121
...meiosis, for which variable number of tandem repeats (VNTRs) are especially susceptible (Brookes 2013). SVA elements harbor unusually large VNTRs as their internal segment and have a unique sequence composition compared to other VNTRs in our . The structural variation in VNTRs is particularly interesting...
OPEN ACCESS ARTICLE
Select this article
Research: Coevolution of retroelements and tandem zinc finger genes
- James H. Thomas and
- Sean Schneider
Genome Res. November 2011 21: 1800-1812; Published in Advance July 22, 2011, doi:10.1101/gr.121749.111
...Coevolution of retroelements and tandem zinc finger genes James H. Thomas 1 and Sean Schneider Department of Genome Sciences, University of Washington, Seattle, Washington 98195, USA Abstract Vertebrate genomes encode large and highly variable...
Select this article
Method: Fast sequence alignment for centromeres with RaMA
- Pinglu Zhang,
- Yanming Wei,
- Qinzhong Tian,
- Quan Zou,
- and Yansu Wang
Genome Res. May 2025 35: 1209-1218; Published in Advance February 12, 2025, doi:10.1101/gr.279763.124
...whose sequence is not maintained by selection will develop periodicities as a result of random crossover. Science 191: 528–535. doi:10.1126/science.1251186 ↵Song JH, Lowe CB, Kingsley DM. 2018. Characterization of a human-specific tandem repeat associated with bipolar disorder and schizophrenia. Am J...
Select this article
ARTICLE: Copy number variation and evolution in humans and chimpanzees
- George H. Perry,
- Fengtang Yang,
- Tomas Marques-Bonet,
- Carly Murphy,
- Tomas Fitzgerald,
- Arthur S. Lee,
- Courtney Hyland,
- Anne C. Stone,
- Matthew E. Hurles,
- Chris Tyler-Smith,
- Evan E. Eichler,
- Nigel P. Carter,
- Charles Lee,
- and Richard Redon
Genome Res. November 2008 18: 1698-1710; Published in Advance September 4, 2008, doi:10.1101/gr.082016.108
...CNV (∼2 Mb for each repeated unit, which is considerably larger than any yet-discovered human multiallelic CNV) that encompassed only one RefSeq gene, EGFL11 , whose function is still unknown ( Fig. 3A ). We also performed FISH on stretched DNA fibers to characterize copy number variation at another...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Course et al. 31 (8): 1313.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: