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whole exome sequencing  (Macrogen)

 
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    Macrogen whole exome sequencing
    Whole Exome Sequencing, supplied by Macrogen, used in various techniques. Bioz Stars score: 86/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/whole+exome+sequencing/exome+sequencing/pm42165280-280-0-6
    Average 86 stars, based on 1 article reviews
    whole exome sequencing - by Bioz Stars, 2026-10
    86/100 stars

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    Related Articles

    Sequencing:

    Article Title: Different Causes of a Transient loss of Consciousness with Convulsions between Two Young Sisters: Epilepsy and Type-2 Long QT Syndrome.
    Article Snippet: .. Moreover, to confirm whether they harbor inherited epilepsy-related genetic variants, as listed previously (14), we outsourced whole exome sequencing to Macrogen Japan (https://macrogen-japan.co.j p/). ..

    Article Title: “Case report”: Whole-exome sequencing reveals compound heterozygous variants in the EIF2B5 gene in a familial case of vanishing white matter
    Article Snippet: .. Whole-exome sequencing was performed by Macrogen (Seoul, South Korea) using an Illumina platform with 150-bp paired-end reads. .. Exome capture and library preparation were conducted using the Twist Human Core Exome kit (Twist Bioscience, San Francisco, CA).

    Article Title: Different Causes of a Transient Loss of Consciousness with Convulsions between Two Young Sisters: Epilepsy and Type-2 Long QT Syndrome
    Article Snippet: .. Moreover, to confirm whether they harbor inherited epilepsy-related genetic variants, as listed previously , we outsourced whole exome sequencing to Macrogen Japan ( https://macrogen-japan.co.jp/ ). ..

    Article Title: Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.
    Article Snippet: .. Whole exome sequencing (WES) was performed by Macrogen (Geumcheon-gu, Seoul, South Korea) and Novogene (Singapore), and bioinformatics analysis of sequence data was performed at the SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore. .. When necessary, direct sequencing was performed with the BigDye Terminator Cycle Sequencing kit (Applied Biosystems, Foster City, CA, USA) with 10 ng of template DNA in each reaction and using a PCR program of 25 cycles of denaturation at 97°C for 30 seconds, annealing at 50°C for 15 seconds, and extension at 60°C for four minutes.

    Article Title: Ultra-rare variants in LAMA2 are risk factors for frontotemporal dementia and motor neuron disease.
    Article Snippet: © The Author(s) 2026.. Published by Oxford University Press This is an Open Access article distributed under the terms of the Creative Commons Attribution-NonCommercial License (https://creativecommons.org/licenses/by-nc/4.0/), which permits non-commercial re-use, distribution, and reproduction in any medium, provided the original work is properly cited.. For commercial re-use, please contact reprints@oup.com for reprints and translation rights for reprints.

    Article Title: ABCC6 pathogenic variants are associated with hemorrhagic phenotypes in Japanese patients with severe cerebral small vessel disease
    Article Snippet: .. Using outsourcing services (Macrogen, Korea), whole-exome sequencing was performed on the remaining patients to investigate CSVD causative genes (see Supplementary Fig. S1 online). ..

    Article Title: Clinico-genetic heterogeneity in Pakistani families affected with muscular dystrophies.
    Article Snippet: .. Exome sequencing and variants calling Whole exome sequencing for six families (A, B, C, D, E and F) was performed at Macrogen, Korea through the Agilent SureSelect Human All Exome V6 Kit (Agilent Technologies, Santa Clara, CA, USA) as described by Efthymiou et al. [17] and Ahmad et al. [18]. .. Paired-end sequencing or PE150 was done by Illumina NovaSeq 6000 (Illumina, Santa Clara, CA, USA).

    Clinical Proteomics:

    Article Title: Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.
    Article Snippet: .. Whole exome sequencing (WES) was performed by Macrogen (Geumcheon-gu, Seoul, South Korea) and Novogene (Singapore), and bioinformatics analysis of sequence data was performed at the SingHealth Duke-NUS Institute of Precision Medicine (PRISM), Singapore. .. When necessary, direct sequencing was performed with the BigDye Terminator Cycle Sequencing kit (Applied Biosystems, Foster City, CA, USA) with 10 ng of template DNA in each reaction and using a PCR program of 25 cycles of denaturation at 97°C for 30 seconds, annealing at 50°C for 15 seconds, and extension at 60°C for four minutes.



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