Results 41 to 50 of about 7,946,195 (290)

Long-read sequence and assembly of segmental duplications [PDF]

Nature Methods, 2018
We have developed a computational method based on polyploid phasing of long sequence reads to resolve collapsed regions of segmental duplications within genome assemblies. Segmental Duplication Assembler (SDA; https://github.com/mvollger/SDA ) constructs graphs in which paralogous sequence variants define the nodes and long-read sequences provide ...
Mitchell R. Vollger, Philip C. Dishuck, Melanie Sorensen, AnneMarie E. Welch, Vy Dang, Max L. Dougherty, Tina A. Graves-Lindsay, Richard K. Wilson, Mark J. P. Chaisson, Evan E. Eichler   +9 more
openaire   +2 more sources

Long-read sequencing provides uniform coverage across deletion-prone region in the virus genome.

, 2022
Panel A shows the percentage of the virus genome mapped sequencing reads (A) and virus genome fraction covered with Nanopore sequencing data (B), in the positive control (VR1986D ATCC SARS-CoV-2 RNA).
Li Chen (5749), Lora V. Hooper (9645168), Jeffrey SoRelle (11944587), Chaoying Liang (9666165), Jinchun Zhou (425820), Brandi Cantarel (3566111), Bo Zhang (6559), Carlos Arana (9666168), Matthew Brock (11510734), Prithvi Raj (6635063)   +9 more
core   +1 more source

Long-read sequence assembly of the gorilla genome [PDF]

Science, 2016
Improving on the gorilla genome Access to complete, high-quality genomes of nonhuman primates will also help us understand human biology. Gordon et al. used long-read sequencing technology to improve genome data on our close relative the gorilla.
Gordon, David, Huddleston, John, Chaisson, Mark JP, Hill, Christopher M, Kronenberg, Zev N, Munson, Katherine M, Malig, Maika, Raja, Archana, Fiddes, Ian, Hillier, LaDeana W, Dunn, Christopher, Baker, Carl, Armstrong, Joel, Diekhans, Mark, Paten, Benedict, Shendure, Jay, Wilson, Richard K, Haussler, David, Chin, Chen-Shan, Eichler, Evan E   +19 more
openaire   +4 more sources

The genome sequence of the Twenty-plume Moth, Alucita hexadactyla Linnaeus, 1758 [version 1; peer review: 2 approved, 1 approved with reservations]

Wellcome Open Research
We present a genome assembly from a specimen of Alucita hexadactyla (Twenty-plume Moth; Arthropoda; Insecta; Lepidoptera; Alucitidae). The genome sequence has a total length of 878.53 megabases.
David C. Lees, Caroline Eve Mitchell, Liam M. Crowley, Peter W. H. Holland   +3 more
doaj   +1 more source

Special features of RAD Sequencing data:implications for genotyping [PDF]

, 2012
Restriction site-associated DNA Sequencing (RAD-Seq) is an economical and efficient method for SNP discovery and genotyping. As with other sequencing-by-synthesis methods, RAD-Seq produces stochastic count data and requires sensitive analysis to develop ...
Fuentes-Utrilla, Pablo, Blaxter, Mark L, Pablo Fuentes-utrilla, Karim Gharbi, Davey, John W, Cezard, Timothée, John W. Davey, Gharbi, Karim, Pablo Fuentes‐Utrilla, Cathlene Eland, Timothée Cezard, Mark L. Blaxter, Eland, Cathlene   +12 more
core   +1 more source

HAT: de novo variant calling for highly accurate short-read and long-read sequencing data [PDF]

, 2023
MOTIVATION: de novo variant (DNV) calling is challenging from parent-child sequenced trio data. We developed H are A nd T ortoise (HAT) to work as an automated workflow to detect DNVs in highly accurate short-read and long-read sequencing data.
Ng, Jeffrey K., Turner, Tychele N., Ng, Jeffrey K, Turner, Tychele N   +3 more
core   +1 more source

Long-Read Sequencing for the Metagenomic Analysis of Microbiomes

BioTechniques, 2023
One technology, long-read sequencing, and one research field, microbiome studies, have risen to prominence over the last decade. But how can one be used in the other? What changes are being wrought? And what limitations remain? [Graphic: see text]
openaire   +2 more sources

lra: A long read aligner for sequences and contigs

PLOS Computational Biology, 2021
It is computationally challenging to detect variation by aligning single-molecule sequencing (SMS) reads, or contigs from SMS assemblies. One approach to efficiently align SMS reads is sparse dynamic programming (SDP), where optimal chains of exact matches are found between the sequence and the genome.
Jingwen Ren, Mark J. P. Chaisson
openaire   +5 more sources

Diagnostic capabilities of nanopore long‐read sequencing in muscular dystrophy

Annals of Clinical and Translational Neurology, 2022
Many individuals with muscular dystrophies remain genetically undiagnosed despite clinical diagnostic testing, including exome sequencing. Some may harbor previously undetected structural variants (SVs) or cryptic splice sites.
Christine C. Bruels, Hannah R. Littel, Audrey L. Daugherty, Seth Stafki, Elicia A. Estrella, Emily S. McGaughy, Don Truong, Jonathan P. Badalamenti, Lynn Pais, Vijay S. Ganesh, Anne O'Donnell‐Luria, Heather J. Stalker, Yang Wang, Christin Collins, Andrea Behlmann, Richard J. L. F. Lemmers, Silvère M. van derMaarel, Regina Laine, Partha S. Ghosh, Basil T. Darras, Carla D. Zingariello, Christina A. Pacak, Louis M. Kunkel, Peter B. Kang   +23 more
doaj   +1 more source

LongQC: A Quality Control Tool for Third Generation Sequencing Long Read Data [PDF]

, 2019
We propose LongQC as an easy and automated quality control tool for genomic datasets generated by third generation sequencing (TGS) technologies such as Oxford Nanopore technologies (ONT) and SMRT sequencing from Pacific Bioscience (PacBio).
Yoshinori Fukasawa, Carty, K., Luca Ermini, Ermini, Luca, Fukasawa, Yoshinori, Wang, H., Min-Sin Cheung, Karen Carty, Wang, Hai, Hai Wang, Cheung, M. -S., Cheung, Ming Sin, Fukasawa, Y., Ermini, L., Carty, Karen   +14 more
core   +2 more sources