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Academic Journal

Algorithmic improvements for discovery of germline copy number variants in next-generation sequencing data.

  • Authors : O'Fallon B; ARUP Institute for Clinical and Experimental Pathology, Salt Lake City, UT, USA. .; Durtschi J

Subjects: DNA Copy Number Variations* ; High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/High-Throughput Nucleotide Sequencing*/methods; Algorithms

  • Source: BMC bioinformatics [BMC Bioinformatics] 2022 Jul 19; Vol. 23 (1), pp. 285. Date of Electronic Publication: 2022 Jul 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

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Academic Journal

Low-cost and clinically applicable copy number profiling using repeat DNA.

  • Authors : Abujudeh S; Cancer Research UK Cambridge Institute, University of Cambridge, Li Ka Shing Centre, Robinson Way, Cambridge, CB2 0RE, UK. .; Zeki SS

Subjects: DNA Copy Number Variations* ; Neoplasms*/Neoplasms*/Neoplasms*/genetics; Base Sequence

  • Source: BMC genomics [BMC Genomics] 2022 Aug 17; Vol. 23 (1), pp. 599. Date of Electronic Publication: 2022 Aug 17.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

SCSilicon: a tool for synthetic single-cell DNA sequencing data generation.

  • Authors : Feng X; School of Software, Northwestern Polytechnical University, Xi'an, Shaanxi, 710072, China. .; Chen L

Subjects: DNA Copy Number Variations* ; Silicon*; DNA

  • Source: BMC genomics [BMC Genomics] 2022 May 11; Vol. 23 (Suppl 4), pp. 359. Date of Electronic Publication: 2022 May 11.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

CNVind: an open source cloud-based pipeline for rare CNVs detection in whole exome sequencing data based on the depth of coverage.

  • Authors : Kuśmirek W; Warsaw University of Technology, Institute of Computer Science, Nowowiejska 15/19, 00-665, Warsaw, Poland. .; Nowak R

Subjects: DNA Copy Number Variations* ; Exome*; Algorithms

  • Source: BMC bioinformatics [BMC Bioinformatics] 2022 Mar 05; Vol. 23 (1), pp. 85. Date of Electronic Publication: 2022 Mar 05.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

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Academic Journal

Evaluation of tools for identifying large copy number variations from ultra-low-coverage whole-genome sequencing data.

  • Authors : Smolander J; Turku Bioscience Centre, University of Turku and Åbo Akademi University, 20520, Turku, Finland.; Khan S

Subjects: DNA Copy Number Variations* ; High-Throughput Nucleotide Sequencing*; Algorithms

  • Source: BMC genomics [BMC Genomics] 2021 May 17; Vol. 22 (1), pp. 357. Date of Electronic Publication: 2021 May 17.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium:

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Academic Journal

Prenatal detection of chromosomal abnormalities and copy number variants in fetuses with congenital gastrointestinal obstruction.

  • Authors : Meng X; Department of Ultrasound, Shengjing Hospital of China Medical University, Shenyang, China.; Jiang L

Subjects: Chromosome Aberrations* ; DNA Copy Number Variations*; Fetal Diseases/Fetal Diseases/Fetal Diseases/*genetics

  • Source: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2022 Jan 19; Vol. 22 (1), pp. 50. Date of Electronic Publication: 2022 Jan 19.Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium:

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Academic Journal

GSA: an independent development algorithm for calling copy number and detecting homologous recombination deficiency (HRD) from target capture sequencing.

  • Authors : Chen D; Tianjin Medical Laboratory, BGI-Tianjin, BGI-Shenzhen, Tianjin, 300308, China.; Shao M

Subjects: DNA Copy Number Variations* ; DNA Repair* ; Homologous Recombination*

  • Source: BMC bioinformatics [BMC Bioinformatics] 2021 Nov 23; Vol. 22 (1), pp. 562. Date of Electronic Publication: 2021 Nov 23.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

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Academic Journal

Improving high-resolution copy number variation analysis from next generation sequencing using unique molecular identifiers.

  • Authors : Viailly PJ; INSERM U1245, Team Genomics and Biomarkers of Lymphoma and Solid Tumors, Normandie Univ, UNIROUEN, Rouen, France. .; Centre Henri Becquerel, Rouen, France. .

Subjects: Comparative Genomic Hybridization* ; DNA Copy Number Variations* ; High-Throughput Nucleotide Sequencing*

  • Source: BMC bioinformatics [BMC Bioinformatics] 2021 Mar 12; Vol. 22 (1), pp. 120. Date of Electronic Publication: 2021 Mar 12.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

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Academic Journal

isoCNV: in silico optimization of copy number variant detection from targeted or exome sequencing data.

  • Authors : Barcelona-Cabeza R; Sequentia Biotech, Carrer de Valencia, Barcelona, Spain.; Departamento de Matemáticas, Escuela Técnica Superior de Ingeniería Industrial de Barcelona (ETSEIB), Universitat Politècnica de Catalunya (UPC), Diagonal 647, Barcelona, Spain.

Subjects: DNA Copy Number Variations* ; Exome*/Exome*/Exome*/genetics; Algorithms

  • Source: BMC bioinformatics [BMC Bioinformatics] 2021 Oct 29; Vol. 22 (1), pp. 530. Date of Electronic Publication: 2021 Oct 29.Publisher: BioMed Central Country of Publication: England NLM ID: 100965194 Publication Model: Electronic Cited Medium:

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Academic Journal

Diagnostic utility of next-generation sequencing-based panel testing in 543 patients with suspected skeletal dysplasia.

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Osteochondrodysplasias*; Female

  • Source: Orphanet journal of rare diseases [Orphanet J Rare Dis] 2021 Oct 09; Vol. 16 (1), pp. 412. Date of Electronic Publication: 2021 Oct 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101266602 Publication Model: Electronic Cited Medium:

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