Searching journal content for articles similar to Chen et al. 18 (7): 1143.

Displaying results 1-10 of 125

For checked items

view abstracts
download to citation manager

Select this article
Perspective: Unraveling the hidden complexity of cancer through long-read sequencing
- Qiuhui Li,
- Ayse G. Keskus,
- Justin Wagner,
- Michal B. Izydorczyk,
- Winston Timp,
- Fritz J. Sedlazeck,
- Alison P. Klein,
- Justin M. Zook,
- Mikhail Kolmogorov,
- and Michael C. Schatz
Genome Res. April 2025 35: 599-620; Published in Advance March 20, 2025, doi:10.1101/gr.280041.124
...) Illumina data indicate a long-range inversion on Chromosome 16p13 with breakpoints in IFT140 and TSC2. (Lower panel) ONT sequencing reveals the actual structure: an insertion in intron 30 of IFT140 (Thibodeau et al. 2020). (C) UpSet plot of somatic structural variants identified in the breast cancer cell...
OPEN ACCESS ARTICLE
Select this article
Mini-Review: The additional diagnostic yield of long-read sequencing in undiagnosed rare diseases
- Giulia F. Del Gobbo and
- Kym M. Boycott
Genome Res. April 2025 35: 559-571; Published in Advance February 3, 2025, doi:10.1101/gr.279970.124
...involving challenging regions/sequences for SRS. For example, a CGR involving several breakpoints in Chromosomes 7 and 9 with an insertional translocation, inversion, and deletion was identified by PacBio LRS in a proband with a complex NDD that was previously missed by SR-GS analysis (Hiatt et al. 2021...
OPEN ACCESS ARTICLE
Select this article
Research: Multisite long-read sequencing reveals the early contributions of somatic structural variations to HBV-related hepatocellular carcinoma tumorigenesis
- Tianfu Zeng,
- Haotian Liao,
- Lin Xia,
- Siyao You,
- Yanqun Huang,
- Jiaxun Zhang,
- Yahui Liu,
- Xuyan Liu,
- and Dan Xie
Genome Res. April 2025 35: 671-685; Published in Advance March 4, 2025, doi:10.1101/gr.279617.124
...SVs are difficult to identify using short-read sequencing (Sakamoto et al. 2020). Although previous studies have revealed distinct mechanisms in the generation of germline and somatic SVs in liver cancer by analyzing complete breakpoint sequences derived from long reads, the -wide landscape of somatic...
OPEN ACCESS ARTICLE
Select this article
Review: Leveraging the power of long reads for targeted sequencing
- Shruti V. Iyer,
- Sara Goodwin,
- and William Richard McCombie
Genome Res. November 2024 34: 1701-1718; doi:10.1101/gr.279168.124
...-instrument targeted sampling approaches (Table 1).View this table: In this window In a new window Table 1. Summary of currently available targeted long-read sequencing approachesPCR sequencingBefore “next-generation” sequencing methods revolutionized science, Sanger sequencing of individually amplified targets...
OPEN ACCESS ARTICLE
Select this article
Method: Accurate fusion transcript identification from long- and short-read isoform sequencing at bulk or single-cell resolution
- Qian Qin,
- Victoria Popic,
- Kirsty Wienand,
- Houlin Yu,
- Emily White,
- Akanksha Khorgade,
- Asa Shin,
- Christophe Georgescu,
- Catarina D. Campbell,
- Arthur Dondi,
- Niko Beerenwinkel,
- Francisca Vazquez,
- Aziz M. Al'Khafaji,
- and Brian J. Haas
Genome Res. April 2025 35: 967-986; Published in Advance March 14, 2025, doi:10.1101/gr.279200.124
...-cell sequencing assays, pose further limitations for fusion detection as short reads are far less likely to span the breakpoint of the fusion transcript.Long-read isoform sequencing is made possible by Pacific Biosciences (PacBio) and Oxford Nanopore Technologies (ONT), enabling full-length isoform sequences via...
OPEN ACCESS ARTICLE
Select this article
Method: Calling amplified haplotypes in next generation tumor sequence data
- Ninad Dewal,
- Yang Hu,
- Matthew L. Freedman,
- Thomas LaFramboise,
- and Itsik Pe'er
Genome Res. February 2012 22: 362-374; Published in Advance November 16, 2011, doi:10.1101/gr.122564.111
...alterations and germline DNA variants are some of the elements subject to selection during tumor evolution. Integrated examination of inherited variation and somatic alterations holds the potential to reveal specific nucleotide alleles that a tumor “prefers” to have amplified. Next-generation sequencing...
Select this article
Research: Epigenomic translocation of H3K4me3 broad domains over oncogenes following hijacking of super-enhancers
- Aneta Mikulasova,
- Daniel Kent,
- Marco Trevisan-Herraz,
- Nefeli Karataraki,
- Kent T.M. Fung,
- Cody Ashby,
- Agata Cieslak,
- Shmuel Yaccoby,
- Frits van Rhee,
- Maurizio Zangari,
- Sharmilan Thanendrarajan,
- Carolina Schinke,
- Gareth J. Morgan,
- Vahid Asnafi,
- Salvatore Spicuglia,
- Chris A. Brackley,
- Anne E. Corcoran,
- Sophie Hambleton,
- Brian A. Walker,
- Daniel Rico,
- and Lisa J. Russell
Genome Res. July 2022 32: 1343-1354; Published in Advance December 21, 2021, doi:10.1101/gr.276042.121
...breakpoint detection, we characterized the normal chromatin landscape of the human IGH locus and its dynamics after pathological genomic rearrangement. We detected an H3K4me3 broad domain (BD) within the IGH locus of healthy B cells that was absent in samples with IGH-CCND1 translocations. The appearance...
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
...3, Sara Goodwin20, Tanner D. Jensen21, Esther Robb22, 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 McCombie20, Fritz J. Sedlazeck23...
OPEN ACCESS ARTICLE
Select this article
Method: Characterization of complex chromosomal rearrangements by targeted capture and next-generation sequencing
- Nara L.M. Sobreira,
- Veena Gnanakkan,
- Michael Walsh,
- Beth Marosy,
- Elizabeth Wohler,
- George Thomas,
- Julie E. Hoover-Fong,
- Ada Hamosh,
- Sarah J. Wheelan,
- and David Valle
Genome Res. October 2011 21: 1720-1727; Published in Advance September 2, 2011, doi:10.1101/gr.122986.111
...and time-consuming and of less than single base pair resolution. Here we describe targeted breakpoint capture followed by next-generation sequencing (TBCS) as a new approach to the general problem of determining the precise structural characterization of translocation breakpoints and related chromosomal...
Select this article
Resource: Genome sequencing of C. elegans balancer strains reveals previously unappreciated complex genomic rearrangements
- Tatiana Maroilley,
- Stephane Flibotte,
- Francesca Jean,
- Victoria Rodrigues Alves Barbosa,
- Andrew Galbraith,
- Afiya Razia Chida,
- Filip Cotra,
- Xiao Li,
- Larisa Oncea,
- Mark Edgley,
- Don Moerman,
- and Maja Tarailo-Graovac
Genome Res. January 2023 33: 154-167; Published in Advance December 5, 2022, doi:10.1101/gr.276988.122
.... It shows an increase in coverage in case of duplication and a decrease in case of deletion. (B) Breakpoints’ junctions for mT1, hIn1, and mIn1, as confirmed by Sanger sequencing. Orange and blue sequences are from different sides of the junction (different chromosomes for a translocation or different...

For checked items

view abstracts
download to citation manager

Searching journal content for articles similar to Chen et al. 18 (7): 1143.

Search Results

Modify Results

This search

Preprint Server

Current Issue

In This Issue

Citation format:
Results / page:
Results order: