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  • 1-10 ل  26 نتائج ل ""single-nucleotide variant""
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Academic Journal

Germline contamination and leakage in whole genome somatic single nucleotide variant detection.

  • Authors : Sendorek DH; Informatics & Biocomputing Program, Ontario Institute for Cancer Research, 661 University Avenue, Suite 510, Toronto, Ontario, M5G 0A3, Canada.; Caloian C

Subjects: Genome, Human* ; Polymorphism, Single Nucleotide*; Germ Cells/Germ Cells/Germ Cells/*metabolism

  • Source: BMC bioinformatics [BMC Bioinformatics] 2018 Jan 31; Vol. 19 (1), pp. 28. Date of Electronic Publication: 2018 Jan 31.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

QQ-SNV: single nucleotide variant detection at low frequency by comparing the quality quantiles.

  • Authors : Van der Borght K; Janssen Infectious Diseases-Diagnostics BVBA, B-2340, Beerse, Belgium. .; Interuniversity Institute for Biostatistics and statistical Bioinformatics, Katholieke Universiteit Leuven, B-3000, Leuven, Belgium. .

Subjects: Software*; HIV Infections/HIV Infections/HIV Infections/*genetics ; HIV-1/HIV-1/HIV-1/*genetics

  • Source: BMC bioinformatics [BMC Bioinformatics] 2015 Nov 10; Vol. 16, pp. 379. Date of Electronic Publication: 2015 Nov 10.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

Quantifying single nucleotide variant detection sensitivity in exome sequencing.

  • Authors : Meynert AM; MRC Human Genetics Unit, MRC Institute for Genetics and Molecular Medicine, University of Edinburgh, Western General Hospital, Crewe Road, Edinburgh, UK. ; Bicknell LS

Subjects: Exome* ; Genetic Variation*; High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/High-Throughput Nucleotide Sequencing/*methods

  • Source: BMC bioinformatics [BMC Bioinformatics] 2013 Jun 18; Vol. 14, pp. 195. Date of Electronic Publication: 2013 Jun 18.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

Improving somatic exome sequencing performance by biological replicates.

  • Authors : Cebeci YE; Department of Computer Engineering, Istanbul Technical University, 34469, Istanbul, Turkey.; Erturk RA

Subjects: Algorithms* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics; Humans

  • Source: BMC bioinformatics [BMC Bioinformatics] 2024 Mar 22; Vol. 25 (1), pp. 124. Date of Electronic Publication: 2024 Mar Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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Academic Journal

Loqusdb: added value of an observations database of local genomic variation.

  • Authors : Magnusson M; Science for Life Laboratory, School of Engineering Sciences in Chemistry, Biotechnology, and Health, KTH Royal Institute of Technology, Stockholm, Sweden. .; Department of Molecular Medicine and Surgery, Karolinska Institutet, Stockholm, Sweden. .

Subjects: Genetic Variation* ; User-Computer Interface*; Databases, Genetic

  • Source: BMC bioinformatics [BMC Bioinformatics] 2020 Jul 01; Vol. 21 (1), pp. 273. Date of Electronic Publication: 2020 Jul Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2105

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  • 1-10 ل  26 نتائج ل ""single-nucleotide variant""