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Illumina Inc trusight
Trusight, supplied by Illumina Inc, used in various techniques. Bioz Stars score: 96/100, based on 121 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/sequencing+methods+nextgen+sequencing+methods/TruSight+One+Expanded+Sequencing+Panel/pmc07705408-4204-4-3
Average 96 stars, based on 121 article reviews
trusight - by Bioz Stars, 2026-10
96/100 stars

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Variant Assay:

Article Title: The genetic architecture of primary lateral sclerosis in a cohort of Italian patients.
Article Snippet: Background and purpose Recent studies suggest that primary lateral sclerosis (PLS) may have a genetic component.. In this work, we performed a next-generation sequencing (NGS) analysis in order to explore the genetic architecture of PLS in a cohort of Italian patients.. Methods NGS was conducted to analyze 228 genes associated with amyotrophic lateral sclerosis (ALS), hereditary spastic paraplegia (HSP), and parkinsonian syndromes (PS) in a cohort of PLS patients diagnosed between 2003 and 2021 at our center.

Next-Generation Sequencing:

Article Title: Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.
Article Snippet: Purpose: Mechanosensation is the ability to detect dynamic mechanical stimuli and is essential for many processes, including sense of touch on the skin.. PIEZO2 is a functional ion channel assembled by three monomers and is an essential mechanotransducer for touch, proprioception, and interoception.. Heterozygous pathogenic variants in PIEZO2 gene are associated with distal arthrogryposis type 3 (MIM:114300) and type 5 (MIM:108145), and with Marden-Walker Syndrome (MIM:248700).

Article Title: Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.
Article Snippet: .. NGS was performed using the TruSight One Expanded Sequencing Panel (Illumina, San Diego, CA, USA), which targets approximately 6700 genes associated with Mendelian disorders. .. Library preparation followed Illumina’s on-bead tagmentation and hybrid-capture enrichment workflow with 50–100 ng of input genomic DNA.

Article Title: Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience
Article Snippet: .. NGS was performed using the TruSight One Expanded Sequencing Panel (Illumina, San Diego, CA, USA), which targets approximately 6700 genes associated with Mendelian disorders. .. Library preparation followed Illumina’s on-bead tagmentation and hybrid-capture enrichment workflow with 50–100 ng of input genomic DNA.

Sequencing:

Article Title: Distal arthrogryposis with impaired proprioception and touch: description of 9 additional cases harbouring novel PIEZO2 variants and literature review.
Article Snippet: Purpose: Mechanosensation is the ability to detect dynamic mechanical stimuli and is essential for many processes, including sense of touch on the skin.. PIEZO2 is a functional ion channel assembled by three monomers and is an essential mechanotransducer for touch, proprioception, and interoception.. Heterozygous pathogenic variants in PIEZO2 gene are associated with distal arthrogryposis type 3 (MIM:114300) and type 5 (MIM:108145), and with Marden-Walker Syndrome (MIM:248700).

Article Title: Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report
Article Snippet: .. Library preparation was carried out using the TruSight One Expanded Panel (6699 genes; Illumina, Inc.), followed by paired‐end sequencing (2x150 bp) on the Illumina NextSeq 550 High Output Kit v2.5 (300 cycles; cat. no. 20024907; Illumina Inc.). ..

Article Title: Personalized surveillance in giant congenital melanocytic nevus, including the role of AI, histopathology and MC1R genotyping: A case report
Article Snippet: .. Library preparation was carried out using the TruSight One Expanded Panel (6699 genes; Illumina, Inc.), followed by paired-end sequencing (2x150 bp) on the Illumina NextSeq 550 High Output Kit v2.5 (300 cycles; cat. no. 20024907; Illumina Inc.). ..

Article Title: Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience.
Article Snippet: .. NGS was performed using the TruSight One Expanded Sequencing Panel (Illumina, San Diego, CA, USA), which targets approximately 6700 genes associated with Mendelian disorders. .. Library preparation followed Illumina’s on-bead tagmentation and hybrid-capture enrichment workflow with 50–100 ng of input genomic DNA.

Article Title: Rare Duplication in the RYR1 Gene Causing Malignant Hyperthermia and Clinical Variability
Article Snippet: .. Initially, both affected siblings underwent sequencing with the Illumina TruSight One Expanded panel (Illumina, San Diego, CA, USA), which targets over 6700 genes and clinically relevant exonic regions. ..

Article Title: A Complex Case of Retinoblastoma Solved by the Combined Approach of Humor/Plasma cfDNA-NGS and LR-WGS
Article Snippet: .. Clinical Exome Sequencing (CES) was performed using the TruSight One Expanded Sequencing Panel (Illumina, San Diego, CA, USA), which targets 6794 clinically relevant genes. .. Library preparation was carried out with the Nextera Flex for Enrichment kit following the manufacturer’s protocol.

Article Title: Current Status and Clinical Characteristics of Familial Hypercholesterolemia Patients in Korea: A Multicenter, Real-World Experience
Article Snippet: .. NGS was performed using the TruSight One Expanded Sequencing Panel (Illumina, San Diego, CA, USA), which targets approximately 6700 genes associated with Mendelian disorders. .. Library preparation followed Illumina’s on-bead tagmentation and hybrid-capture enrichment workflow with 50–100 ng of input genomic DNA.



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Image Search Results


Sequence of measured nucleotides in a fragment of mtDNA of NIST RM 8256 (A \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = adenine, C \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = cytosine, G \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = guanine, T \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = thymine), and ASCII codes representing the corresponding Phred quality scores

Journal: Analytical and Bioanalytical Chemistry

Article Title: Robust discrimination between closely related species of salmon based on DNA fragments

doi: 10.1007/s00216-024-05724-9

Figure Lengend Snippet: Sequence of measured nucleotides in a fragment of mtDNA of NIST RM 8256 (A \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = adenine, C \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = cytosine, G \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = guanine, T \documentclass[12pt]{minimal} \usepackage{amsmath} \usepackage{wasysym} \usepackage{amsfonts} \usepackage{amssymb} \usepackage{amsbsy} \usepackage{mathrsfs} \usepackage{upgreek} \setlength{\oddsidemargin}{-69pt} \begin{document}$$=$$\end{document} = thymine), and ASCII codes representing the corresponding Phred quality scores

Article Snippet: We have developed a novel method to quantify the confidence surrounding the ability of a representative NextGen Sequencing method to verify the genetic identity of RM 8256, Wild-caught Coho Salmon [ ], which is a fresh frozen fish homogenate prepared from multiple individuals collected off the coast of Alaska, USA.

Techniques: Sequencing

The first line has the same sequence listed in Fig. as it was measured, and the second line has one of the 25 replicates that were generated for it based on the site-specific identification error probabilities. This particular replicate differs from the measured sequence in the seven sites marked in red

Journal: Analytical and Bioanalytical Chemistry

Article Title: Robust discrimination between closely related species of salmon based on DNA fragments

doi: 10.1007/s00216-024-05724-9

Figure Lengend Snippet: The first line has the same sequence listed in Fig. as it was measured, and the second line has one of the 25 replicates that were generated for it based on the site-specific identification error probabilities. This particular replicate differs from the measured sequence in the seven sites marked in red

Article Snippet: We have developed a novel method to quantify the confidence surrounding the ability of a representative NextGen Sequencing method to verify the genetic identity of RM 8256, Wild-caught Coho Salmon [ ], which is a fresh frozen fish homogenate prepared from multiple individuals collected off the coast of Alaska, USA.

Techniques: Sequencing, Generated

The top section labeled “MC Replicate” has the “perturbed” sequence listed in the second line of Fig. , from one of the 16 versions of the ensemble of the high-accuracy alignments that Muscle 5.2 produces in this case. The bottom section labeled “Coho Reference Sequence” has the 654-nucleotides long reference sequence for Coho salmon. The “X” indicate “missing” sites in the replicate. The DL distance between these two sequences, disregarding all these “missing” sites, is 10

Journal: Analytical and Bioanalytical Chemistry

Article Title: Robust discrimination between closely related species of salmon based on DNA fragments

doi: 10.1007/s00216-024-05724-9

Figure Lengend Snippet: The top section labeled “MC Replicate” has the “perturbed” sequence listed in the second line of Fig. , from one of the 16 versions of the ensemble of the high-accuracy alignments that Muscle 5.2 produces in this case. The bottom section labeled “Coho Reference Sequence” has the 654-nucleotides long reference sequence for Coho salmon. The “X” indicate “missing” sites in the replicate. The DL distance between these two sequences, disregarding all these “missing” sites, is 10

Article Snippet: We have developed a novel method to quantify the confidence surrounding the ability of a representative NextGen Sequencing method to verify the genetic identity of RM 8256, Wild-caught Coho Salmon [ ], which is a fresh frozen fish homogenate prepared from multiple individuals collected off the coast of Alaska, USA.

Techniques: Labeling, Sequencing