Articles with "capture sequencing" as a keyword



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Targeted gene capture sequencing in diagnosis of dystonia patients

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Published in 2018 at "Journal of the Neurological Sciences"

DOI: 10.1016/j.jns.2018.04.005

Abstract: BACKGROUND Dystonia is a movement disorder with high clinical and genetic heterogeneity. Molecular diagnosis is important for an accurate diagnosis of dystonia. Targeted gene capture sequencing has been an effective method for screening multiple candidate… read more here.

Keywords: capture sequencing; dystonia; gene; gene capture ... See more keywords
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Whole exon capture sequencing for identifying mutations associated with pulmonary benign metastasising leiomyoma

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Published in 2023 at "BMJ Case Reports"

DOI: 10.1136/bcr-2022-251072

Abstract: A woman in her early 20s presented with cough and fever. She had undergone an abdominal myomectomy 3 years ago for uterine leiomyoma. Chest CT and positron emission tomography-CT revealed multiple round nodules in both lungs,… read more here.

Keywords: whole exon; metastasising leiomyoma; pulmonary benign; exon capture ... See more keywords
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Application of liquid biopsy-based targeted capture sequencing analysis to improve the precision treatment of non-small cell lung cancer by tyrosine kinase inhibitors

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Published in 2022 at "BMJ Open Respiratory Research"

DOI: 10.1136/bmjresp-2021-001154

Abstract: Background Targeted therapy of patients with non-small cell lung cancer (NSCLC) who harbour sensitising mutations by tyrosine kinase inhibitors (TKIs) has been found more effective than traditional chemotherapies. However, target genes status (eg, epidermal growth… read more here.

Keywords: cell; capture sequencing; tkis; treatment ... See more keywords
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Capture Sequencing Is a Useful Method for Comprehensive Clonality Analysis Based on Ig/TCR Gene Rearrangements in Acute Lymphoblastic Leukemia

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Published in 2018 at "Blood"

DOI: 10.1182/blood-2018-99-115624

Abstract: Introduction Immunoglobulin (Ig)/ T-cell receptor (TCR) gene rearrangements are the most widely used clonal marker to detect residual leukemic cells in patients with Acute Lymphoblastic Leukemia (ALL). Ig/TCR gene rearrangements based molecular minimum residual disease… read more here.

Keywords: capture sequencing; mrd; gene rearrangements; tcr gene ... See more keywords
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Preimplantation genetic testing for a family with usher syndrome through targeted sequencing and haplotype analysis

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Published in 2019 at "BMC Medical Genomics"

DOI: 10.1186/s12920-019-0600-x

Abstract: BackgroundPreimplantation genetic testing for monogenic defects (PGT-M) has been available in clinical practice. This study aimed to validate the applicability of targeted capture sequencing in developing personalized PGT-M assay.MethodsOne couple at risk of transmitting Usher… read more here.

Keywords: capture sequencing; haplotype analysis; genetic testing; usher syndrome ... See more keywords
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Capture Sequencing Enables Sensitive Detection of Tick-Borne Agents in Human Blood

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Published in 2022 at "Frontiers in Microbiology"

DOI: 10.3389/fmicb.2022.837621

Abstract: Assay sensitivity can be a limiting factor in the use of PCR as a tool for the detection of tick-borne pathogens in blood. We evaluated the performance of Tick-borne disease Capture Sequencing Assay (TBDCapSeq), a… read more here.

Keywords: borne; tick borne; borne agents; capture sequencing ... See more keywords
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Development and Application of a Target Capture Sequencing SNP-Genotyping Platform in Rice

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Published in 2022 at "Genes"

DOI: 10.3390/genes13050794

Abstract: The development of efficient, robust, and high-throughput SNP genotyping platforms is pivotal for crop genetics and breeding. Recently, SNP genotyping platforms based on target capture sequencing, which is very flexible in terms of the number… read more here.

Keywords: platform; target capture; snp genotyping; capture sequencing ... See more keywords