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generation sequencing data analysis  (Sophia Genetics)


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    Structured Review

    Sophia Genetics generation sequencing data analysis
    Generation Sequencing Data Analysis, supplied by Sophia Genetics, used in various techniques. Bioz Stars score: 97/100, based on 747 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
    https://www.bioz.com/product/next-generation+sequencing+data+analysis/SOPHiA+DDM/pm37510238-71-0-14
    Average 97 stars, based on 747 article reviews
    generation sequencing data analysis - by Bioz Stars, 2026-11
    97/100 stars

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    Related Articles

    Generated:

    Article Title: Breast cancer in East Africa: Prevalence and spectrum of germline SNV /indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania
    Article Snippet: After determining the appropriate concentration, sequence analysis was performed using Illumina NextSeq (Illumina® NextSeqTM Illumina). .. Generated raw data from NGS analysis were uploaded to the SOPHIA DDMTM (Sophia Genetics SA) platform and analyzed referring to the Hg19 reference genome (Genome Reference Consortium human build 37, GRCh37). ..

    Article Title: Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
    Article Snippet: 1Department of Molecular Biology and Biotechnology, University of Dar es Salaam, Dar es Salaam, Tanzania 2Mbeya College of Health and Allied Sciences, University of Dar es Salaam, Mbeya, Tanzania 3Division of Cancer Genetics, Department of Basic Oncology, Institute of Oncology, Istanbul University, Istanbul, Turkiye 4DESAM Research Institute, Near East University, Nicosia, Cyprus 5MUHAS Genetic Laboratory, Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania 6Academic, Research and Consultancy Unit, Ocean Road Cancer Institute, Dar es Salaam, Tanzania 7Department of Medical Biology and Genetics, Faculty of Medicine, Istanbul Arel University, Istanbul, Turkiye 8Department of Rare Diseases, Child Health Institute, Istanbul University, Istanbul, Turkiye

    Next-Generation Sequencing:

    Article Title: Breast cancer in East Africa: Prevalence and spectrum of germline SNV /indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania
    Article Snippet: After determining the appropriate concentration, sequence analysis was performed using Illumina NextSeq (Illumina® NextSeqTM Illumina). .. Generated raw data from NGS analysis were uploaded to the SOPHIA DDMTM (Sophia Genetics SA) platform and analyzed referring to the Hg19 reference genome (Genome Reference Consortium human build 37, GRCh37). ..

    Article Title: A Case of Class I 17p13.3 Microduplication Syndrome with Unilateral Hearing Loss.
    Article Snippet: 2 The above findings were subsequently confirmed by the whole-exome sequencing analysis (WES) of 21.285 human genes using the Twist Human Core Exome EF Multiplex Complete kit from TWIST Bioscience carried on NextSeq500 by Illumina. .. Next-generation sequencing data analysis was performed by pipelines that were validated by Sophia DDM (Sophia Genetics). ..

    Article Title: Breast cancer in East Africa: Prevalence and spectrum of germline SNV/indel and CNVs in BRCA1 and BRCA2 genes among breast cancer patients in Tanzania.
    Article Snippet: 1Department of Molecular Biology and Biotechnology, University of Dar es Salaam, Dar es Salaam, Tanzania 2Mbeya College of Health and Allied Sciences, University of Dar es Salaam, Mbeya, Tanzania 3Division of Cancer Genetics, Department of Basic Oncology, Institute of Oncology, Istanbul University, Istanbul, Turkiye 4DESAM Research Institute, Near East University, Nicosia, Cyprus 5MUHAS Genetic Laboratory, Department of Biochemistry, Muhimbili University of Health and Allied Sciences, Dar es Salaam, Tanzania 6Academic, Research and Consultancy Unit, Ocean Road Cancer Institute, Dar es Salaam, Tanzania 7Department of Medical Biology and Genetics, Faculty of Medicine, Istanbul Arel University, Istanbul, Turkiye 8Department of Rare Diseases, Child Health Institute, Istanbul University, Istanbul, Turkiye

    Sequencing:

    Article Title: A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis
    Article Snippet: .. Data analysis was carried out using the SOPHiA DDM TM platform, in which the reads were mapped to the human genome (hg19) and sequencing depth was computed and normalized to calculate a genome-wide coverage profile. ..

    Genome Wide:

    Article Title: A Benchmark of In-House Homologous Recombination Repair Deficiency Testing Solutions for High-Grade Serous Ovarian Cancer Diagnosis
    Article Snippet: .. Data analysis was carried out using the SOPHiA DDM TM platform, in which the reads were mapped to the human genome (hg19) and sequencing depth was computed and normalized to calculate a genome-wide coverage profile. ..



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