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arrayed primer extension (apex) microarray approach  (Asper Biotech Ltd)

 
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    Asper Biotech Ltd arrayed primer extension (apex) microarray approach
    Arrayed Primer Extension (Apex) Microarray Approach, supplied by Asper Biotech Ltd, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/arrayed+primer+extension+(apex)+microarray/arrayed+primer+extension++apex++microarray+method/pm21521029-67-8-5
    Average 90 stars, based on 1 article reviews
    arrayed primer extension (apex) microarray approach - by Bioz Stars, 2026-10
    90/100 stars

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    Related Articles

    Microarray:

    Article Title: Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
    Article Snippet: Molecular Investigations Genomic DNA was isolated from peripheral blood lymphocytes using the Puregene kit (Gentra Puregene Blood Extraction Kit, Qiagen, Manchester, UK). .. Patient 1.1 was initially negative for known retinal dystrophy variants using an arrayed primer extension (APEX)based test (Asper Biotech, Ltd., Tartu, Estonia) using a genotyping microarray containing >300 disease causing variants and common polymorphisms for eight retinal dystrophy genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, LRAT, and MERTK) as previously described.19 He was then found negative by targeted next-generation sequencing (NGS) of the coding regions of 31 retinal dystrophy genes performed at the Bioscientia Center for Human Genetics (Ingelheim, Germany) using the Genome Sequencer FLX system (Roche, Basel, Switzerland), enriched using a Roche/NimbleGen sequence capture and analyzed using Roche GS Reference Mapper (version 2.5.3) and JSI Medical Systems Software (version 3.5; Ettenheim, Germany). .. Whole exome sequencing (WES) was performed at AROS Applied Biotechnology using a solution-phase Agilent SureSelect 38-Mb exome capture (SureSelect Human All Exon Kit; Agilent Technologies, Inc., Santa Clara, CA, USA) and the Illumina HiSeq 2000 sequencer (Illumina, Inc., San Diego, CA, USA).

    Article Title: APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population.
    Article Snippet: Numerous pharmacogenetic studies which have focused on monitoring responses to drug treatment have delivered promising improvement in individual access to the patient.. Knowledge of the patient’s genotype can avoid a lack of response to the drug treatment or serious adverse effects, which may even lead to death.. The possibility of predicting therapeutic effect must not only facilitate treatment for the patient, but it must also provide successful and cost-effective pharmaceutical care.

    Article Title: Molecular and Clinical Findings in Patients With Knobloch Syndrome.
    Article Snippet: .. Patients 1.1 and 5 had previously undergone arrayed primer extension microarray (Asper Biotech Ltd), performed using a genotyping microarray containing more than 700 disease-causing variants for 28 retinal dystrophy genes.26 Patients 5, 6.1, 6.2, and 7 underwent whole-exome sequencing (WES) with identified variants then confirmed by bidirectional Sanger sequencing in the affected probands and available relatives. ..

    Next-Generation Sequencing:

    Article Title: Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
    Article Snippet: Molecular Investigations Genomic DNA was isolated from peripheral blood lymphocytes using the Puregene kit (Gentra Puregene Blood Extraction Kit, Qiagen, Manchester, UK). .. Patient 1.1 was initially negative for known retinal dystrophy variants using an arrayed primer extension (APEX)based test (Asper Biotech, Ltd., Tartu, Estonia) using a genotyping microarray containing >300 disease causing variants and common polymorphisms for eight retinal dystrophy genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, LRAT, and MERTK) as previously described.19 He was then found negative by targeted next-generation sequencing (NGS) of the coding regions of 31 retinal dystrophy genes performed at the Bioscientia Center for Human Genetics (Ingelheim, Germany) using the Genome Sequencer FLX system (Roche, Basel, Switzerland), enriched using a Roche/NimbleGen sequence capture and analyzed using Roche GS Reference Mapper (version 2.5.3) and JSI Medical Systems Software (version 3.5; Ettenheim, Germany). .. Whole exome sequencing (WES) was performed at AROS Applied Biotechnology using a solution-phase Agilent SureSelect 38-Mb exome capture (SureSelect Human All Exon Kit; Agilent Technologies, Inc., Santa Clara, CA, USA) and the Illumina HiSeq 2000 sequencer (Illumina, Inc., San Diego, CA, USA).

    Sequencing:

    Article Title: Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
    Article Snippet: Molecular Investigations Genomic DNA was isolated from peripheral blood lymphocytes using the Puregene kit (Gentra Puregene Blood Extraction Kit, Qiagen, Manchester, UK). .. Patient 1.1 was initially negative for known retinal dystrophy variants using an arrayed primer extension (APEX)based test (Asper Biotech, Ltd., Tartu, Estonia) using a genotyping microarray containing >300 disease causing variants and common polymorphisms for eight retinal dystrophy genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, LRAT, and MERTK) as previously described.19 He was then found negative by targeted next-generation sequencing (NGS) of the coding regions of 31 retinal dystrophy genes performed at the Bioscientia Center for Human Genetics (Ingelheim, Germany) using the Genome Sequencer FLX system (Roche, Basel, Switzerland), enriched using a Roche/NimbleGen sequence capture and analyzed using Roche GS Reference Mapper (version 2.5.3) and JSI Medical Systems Software (version 3.5; Ettenheim, Germany). .. Whole exome sequencing (WES) was performed at AROS Applied Biotechnology using a solution-phase Agilent SureSelect 38-Mb exome capture (SureSelect Human All Exon Kit; Agilent Technologies, Inc., Santa Clara, CA, USA) and the Illumina HiSeq 2000 sequencer (Illumina, Inc., San Diego, CA, USA).

    Article Title: APEX microarray panel for genotyping polymorphisms in cancer chemotherapy and estimation frequencies in a Slovak population.
    Article Snippet: Numerous pharmacogenetic studies which have focused on monitoring responses to drug treatment have delivered promising improvement in individual access to the patient.. Knowledge of the patient’s genotype can avoid a lack of response to the drug treatment or serious adverse effects, which may even lead to death.. The possibility of predicting therapeutic effect must not only facilitate treatment for the patient, but it must also provide successful and cost-effective pharmaceutical care.

    Article Title: Molecular and Clinical Findings in Patients With Knobloch Syndrome.
    Article Snippet: .. Patients 1.1 and 5 had previously undergone arrayed primer extension microarray (Asper Biotech Ltd), performed using a genotyping microarray containing more than 700 disease-causing variants for 28 retinal dystrophy genes.26 Patients 5, 6.1, 6.2, and 7 underwent whole-exome sequencing (WES) with identified variants then confirmed by bidirectional Sanger sequencing in the affected probands and available relatives. ..

    Article Title: Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
    Article Snippet: .. Most individuals had undergone some previous genetic testing using routine diagnostic approaches: direct Sanger sequencing of highly suggestive genes based on clinical characteristics, direct sequencing of candidate genes in gene discovery projects, and arrayed primer extension (APEX, Asper Biotech Ltd.) assays for retinitis pigmentosa (MIM: 268000 ) and Leber congenital amaurosis (LCA [MIM: 204000 ]). ..

    Software:

    Article Title: Nonsyndromic Retinal Dystrophy due to Bi-Allelic Mutations in the Ciliary Transport Gene IFT140.
    Article Snippet: Molecular Investigations Genomic DNA was isolated from peripheral blood lymphocytes using the Puregene kit (Gentra Puregene Blood Extraction Kit, Qiagen, Manchester, UK). .. Patient 1.1 was initially negative for known retinal dystrophy variants using an arrayed primer extension (APEX)based test (Asper Biotech, Ltd., Tartu, Estonia) using a genotyping microarray containing >300 disease causing variants and common polymorphisms for eight retinal dystrophy genes (AIPL1, CRB1, CRX, GUCY2D, RPE65, RPGRIP1, LRAT, and MERTK) as previously described.19 He was then found negative by targeted next-generation sequencing (NGS) of the coding regions of 31 retinal dystrophy genes performed at the Bioscientia Center for Human Genetics (Ingelheim, Germany) using the Genome Sequencer FLX system (Roche, Basel, Switzerland), enriched using a Roche/NimbleGen sequence capture and analyzed using Roche GS Reference Mapper (version 2.5.3) and JSI Medical Systems Software (version 3.5; Ettenheim, Germany). .. Whole exome sequencing (WES) was performed at AROS Applied Biotechnology using a solution-phase Agilent SureSelect 38-Mb exome capture (SureSelect Human All Exon Kit; Agilent Technologies, Inc., Santa Clara, CA, USA) and the Illumina HiSeq 2000 sequencer (Illumina, Inc., San Diego, CA, USA).

    other:

    Article Title: Abstracts of the 52nd ISCEV International Symposium, July 10-15, 2014, Boston, MA.
    Article Snippet: The 52nd ISCEV International Symposium Abstract Issue Springer-Verlag Berlin Heidelberg 2014 Adachi award lecture High standards in retina and art

    Article Title: Genotyping microarray for CSNB-associated genes.
    Article Snippet: For the arrayed primer extension (APEX) microarray (Asper Biotech Ltd., Tartu, Estonia), 126 sequence variants were selected from multiple sources, including recent mutations identified in our laboratory and mutations or putative polymorphisms found in a comprehensive literature and database search.4 DNA was extracted by standard methods (detailed information is available on request) and mutation analyses of CABP4, CACNA1F, CACNA2D4, GRM6, NYX, and RHO were performed as described recently.8–11 Mutation analyses for GNAT1 and PDE6B were performed by PCR-amplification of the 8 coding exons of GNAT1 in 5 amplicons and the 22 coding exons of PDE6B in 20 fragments, by applying a polymerase enzyme (HotFire, Tartu, Estonia) and subsequently using direct sequencing (detailed conditions on request).

    Diagnostic Assay:

    Article Title: Comprehensive Rare Variant Analysis via Whole-Genome Sequencing to Determine the Molecular Pathology of Inherited Retinal Disease
    Article Snippet: .. Most individuals had undergone some previous genetic testing using routine diagnostic approaches: direct Sanger sequencing of highly suggestive genes based on clinical characteristics, direct sequencing of candidate genes in gene discovery projects, and arrayed primer extension (APEX, Asper Biotech Ltd.) assays for retinitis pigmentosa (MIM: 268000 ) and Leber congenital amaurosis (LCA [MIM: 204000 ]). ..



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