Results 71 to 80 of about 48,352 (276)

Comprehensive analysis of structural variants in chickens using PacBio sequencing

Frontiers in Genetics, 2022
Structural variants (SVs) are one of the main sources of genetic variants and have a greater impact on phenotype evolution, disease susceptibility, and environmental adaptations than single nucleotide polymorphisms (SNPs). However, SVs remain challenging to accurately type, with several detection methods showing different limitations. Here, we explored
Jinxin Zhang, Changsheng Nie, Xinghua Li, Xiurong Zhao, Yaxiong Jia, Jianlin Han, Yu Chen, Liang Wang, Xueze Lv, Weifang Yang, Kaiyang Li, Jianwei Zhang, Zhonghua Ning, Haigang Bao, Chunjiang Zhao, Junying Li, Lujiang Qu   +16 more
openaire   +3 more sources

De Novo Complex Genomic Rearrangement Spanning 2q31.1 in a Proband With Congenital Malformations: Genotype–Phenotype Correlation and Development of a CGR Detection Pipeline

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT The 2q31 region is commonly associated with pathogenic alleles of the HOXD cluster leading to various clinical phenotypes related to skeletal development. We present a proband with tetralogy of Fallot and multiple congenital anomalies. Genomic variant screening including an in‐house CGR detection pipeline pairing genome sequencing (GS ...
Katherine Helle, Jesse D. Bengtsson, Mira Gandhi, Christopher M. Grochowski, Ming Yin Lun, Neha Sudhir, Shalini N. Jhangiani, Fritz J. Sedlazeck, Seema R. Lalani, Neil A. Hanchard, Claudia M. B. Carvalho   +10 more
wiley   +1 more source

The complete mitochondrial genome of the tartar Sand Boa Eryx tataricus

Mitochondrial DNA. Part B. Resources, 2019
Eryx is a genus of snakes belonging to the family Boidae. In this study, the mitochondrial genome sequence of Eryx tataricus was generated using a PacBio RSII DNA sequencer employing the single molecule, real-time sequencing technology.
Xiuli Sun, Yaping Li, Jia Liu, Jun Sheng
doaj   +1 more source

Predominant contribution of cis-regulatory divergence in the evolution of mouse alternative splicing [PDF]

, 2015
Divergence of alternative splicing represents one of the major driving forces to shape phenotypic diversity during evolution. However, the extent to which these divergences could be explained by the evolving cis-regulatory versus trans-acting factors ...
Ballegeer, Marlies, Chen, Wei, Gao, Qingsong, Libert, Claude, Sun, Wei   +4 more
core   +2 more sources

AlignGraph2: similar genome-assisted reassembly pipeline for PacBio long reads

Briefings in Bioinformatics, 2021
Abstract Contigs assembled from the third-generation sequencing long reads are usually more complete than the second-generation short reads. However, the current algorithms still have difficulty in assembling the long reads into the ideal complete and accurate genome, or the theoretical best result [1].
Shien, Huang, Xinyu, He, Guohua, Wang, Ergude, Bao   +3 more
openaire   +2 more sources

A cost‐effective DNA extraction protocol for long‐read sequencing in non‐model plants

Applications in Plant Sciences, EarlyView.
Abstract Premise Third‐generation sequencing has revolutionized genomics, enabling in‐depth analysis of genome sequence, structure, and epigenetic features. Yet, extracting high‐quality DNA for long‐read sequencing remains a bottleneck—particularly in non‐model plants, such as mature trees growing in natural environments, which often contain abundant ...
Sofia Gaischuk, Cintia F. Marchetti, Ezequiel Petrillo, Fernando A. Rabanal, Detlef Weigel, Nicolás Bellora, M. Verónica Arana   +6 more
wiley   +1 more source

De novo assembly of the cattle reference genome with single-molecule sequencing. [PDF]

, 2020
BackgroundMajor advances in selection progress for cattle have been made following the introduction of genomic tools over the past 10-12 years. These tools depend upon the Bos taurus reference genome (UMD3.1.1), which was created using now-outdated ...
Bickhart, Derek M, Cole, John B, Couldrey, Christine, Dreischer, Christian, Elsik, Christine G, Ghurye, Jay, Hagen, Darren E, Hall, Richard, Hammond, John A, Hoffman, Jinna, Koren, Sergey, Li, Wenli, Liu, George, Low, Wai Y, McDaneld, Tara G, McKay, Stephanie D, Medrano, Juan F, Murdoch, Brenda M, Nandolo, Wilson, Phillippy, Adam M, Rhie, Arang, Rosen, Benjamin D, Rowan, Troy N, Schnabel, Robert D, Schroeder, Steven G, Schultheiss, Sebastian J, Schwartz, John C, Smith, Timothy PL, Snelling, Warren M, Thibaud-Nissen, Françoise, Tseng, Elizabeth, Van Tassell, Curtis P, Zimin, Aleksey   +32 more
core  

Finished Genome Sequences of Xanthomonas fragariae, the Cause of Bacterial Angular Leaf Spot of Strawberry. [PDF]

, 2016
Xanthomonas fragariae is a foliar pathogen of strawberry that is of significant concern to nursery production of strawberry transplants and field production of strawberry fruit.
Henry, Peter M, Leveau, Johan HJ
core   +2 more sources

The ageing holobiont: crosstalk between telomere dynamics, oxidative stress and the gut microbiome

Biological Reviews, EarlyView.
ABSTRACT The gut tissue is at the frontline of early onset of ageing. It exhibits high cell turnover rates and rapid telomere shortening, which can have systemic effects on the developing or senescing organism. We conducted a literature review of studies on the crosstalk between telomere length dynamics, telomerase activity, oxidative stress, and gut ...
Michael L. Pepke, Søren B. Hansen, Morten T. Limborg   +2 more
wiley   +1 more source

Caracterización de las tecnologías de secuenciación genética de segunda y tercera generación

Tecnología en Marcha
El avance en la secuenciación de material genético ha favorecido el estudio de nuevas áreas de investigación relacionadas a la genómica, transcriptómica y demás ciencias -ómicas.
Dorian Rojas-Villalta, Daniela Benavides-Villegas, Belén Angulo-Hidalgo, Luis Muñoz-Solorzano, Chiara Consumi-Tubito   +4 more
doaj   +1 more source