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Academic Journal

Var∣Decrypt: a novel and user-friendly tool to explore and prioritize variants in whole-exome sequencing data.

  • Authors : Salma M; Institut de Génétique Moléculaire de Montpellier, Univ Montpellier, CNRS, Montpellier, France. .; Laboratory of Excellence GR-Ex, Université de Paris, Paris, France. .

Subjects: Computational Biology* ; Leukemia*; Humans

  • Source: Epigenetics & chromatin [Epigenetics Chromatin] 2023 Jun 14; Vol. 16 (1), pp. 23. Date of Electronic Publication: 2023 Jun 14.Publisher: BioMed Central Country of Publication: England NLM ID: 101471619 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-8935

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Academic Journal

Genomic and Bioinformatics Analysis of Familial Partial Lipodystrophy Type 3 Identified in a Patient with Novel PPARγ Mutation and Robust Response to Pioglitazone.

  • Authors : Hummadi A; Adult Endocrinology and Diabetes, Jazan Endocrinology & Diabetes Center, Ministry of Health, Jazan 82723, Saudi Arabia.; Yafei S

Subjects: Pioglitazone*/Pioglitazone*/Pioglitazone*/therapeutic use ; Pioglitazone*/Pioglitazone*/Pioglitazone*/pharmacology ; Lipodystrophy, Familial Partial*/Lipodystrophy, Familial Partial*/Lipodystrophy, Familial Partial*/genetics

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Nov 10; Vol. 25 (22). Date of Electronic Publication: 2024 Nov 10.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Validation of computational determination of microsatellite status using whole exome sequencing data from colorectal cancer patients.

  • Authors : Johansen AFB; Department of Molecular Medicine, Aarhus University Hospital, Palle Juul-Jensens Boulevard 99, DK-8200, Aarhus N, Denmark.; Kassentoft CG

Subjects: Microsatellite Instability* ; Exome Sequencing*; Colorectal Neoplasms/Colorectal Neoplasms/Colorectal Neoplasms/*genetics

  • Source: BMC cancer [BMC Cancer] 2019 Oct 21; Vol. 19 (1), pp. 971. Date of Electronic Publication: 2019 Oct 21.Publisher: BioMed Central Country of Publication: England NLM ID: 100967800 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2407

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Academic Journal

CAPICE: a computational method for Consequence-Agnostic Pathogenicity Interpretation of Clinical Exome variations.

  • Authors : Li S; Department of Genetics, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.; Genomics Coordination Center, University of Groningen, University Medical Center Groningen, Groningen, the Netherlands.

Subjects: Exome* ; Genetic Variation* ; Software*

  • Source: Genome medicine [Genome Med] 2020 Aug 24; Vol. 12 (1), pp. 75. Date of Electronic Publication: 2020 Aug 24.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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Academic Journal

Impact of concurrency on the performance of a whole exome sequencing pipeline.

  • Authors : Dall'Olio D; Department of Physics and Astronomy, University of Bologna, 40127, Bologna, BO, Italy.; Curti N

Subjects: Computational Biology*/Computational Biology*/Computational Biology*/methods ; High-Throughput Nucleotide Sequencing* ; Software*

  • Source: BMC bioinformatics [BMC Bioinformatics] 2021 Feb 09; Vol. 22 (1), pp. 60. Date of Electronic Publication: 2021 Feb 09.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

Performance assessment of computational tools to detect microsatellite instability.

  • Authors : Anthony H; School of Mathematical and Statistical Sciences, University of Galway, Galway H91 TK33, Ireland.; The SFI Centre for Research Training in Genomics Data Science, Galway D02 FX65, Ireland.

Subjects: Microsatellite Instability* ; Computational Biology*/Computational Biology*/Computational Biology*/methods ; Software*

  • Source: Briefings in bioinformatics [Brief Bioinform] 2024 Jul 25; Vol. 25 (5).Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Mutational signatures of colorectal cancers according to distinct computational workflows.

  • Authors : Battuello P; Department of Oncology, Molecular Biotechnology Center, University of Turin, Piazza Nizza 44, 10126, Turin, Italy.; Genomics of Cancer and Targeted Therapies Unit, IFOM ETS, The AIRC Institute of Molecular Oncology, Via Adamello 16, 20139, Milan, Italy.

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/pathology ; Mutation*

  • Source: Briefings in bioinformatics [Brief Bioinform] 2024 May 23; Vol. 25 (4).Publisher: Oxford University Press Country of Publication: England NLM ID: 100912837 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Ximmer: a system for improving accuracy and consistency of CNV calling from exome data.

  • Authors : Sadedin SP; Bioinformatics, Murdoch Children's Research Institute, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia.; Victorian Clinical Genetics Services, Royal Children's Hospital, Flemington Road, Parkville, Victoria 3052 Australia.

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

  • Source: GigaScience [Gigascience] 2018 Oct 01; Vol. 7 (10). Date of Electronic Publication: 2018 Oct 01.Publisher: Oxford University Press Country of Publication: United States NLM ID: 101596872 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Comparison of GATK and DeepVariant by trio sequencing.

  • Authors : Lin YL; Department of Medical Genetics, National Taiwan University Hospital, 8 Chung-Shan South Road, Taipei, 10041, Taiwan.; Chang PC

Subjects: Genetic Variation* ; Haplotypes* ; High-Throughput Nucleotide Sequencing*

  • Source: Scientific reports [Sci Rep] 2022 Feb 02; Vol. 12 (1), pp. 1809. Date of Electronic Publication: 2022 Feb 02.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

TAPES: A tool for assessment and prioritisation in exome studies.

  • Authors : Xavier A; School of Biomedical Sciences and Pharmacy, Faculty of Health and Medicine, University of Newcastle and Hunter Medical Research Institute, Newcastle, Australia.; Scott RJ

Subjects: Computational Biology/Computational Biology/Computational Biology/*methods ; Exome/Exome/Exome/*genetics ; Sequence Analysis, DNA/Sequence Analysis, DNA/Sequence Analysis, DNA/*methods

  • Source: PLoS computational biology [PLoS Comput Biol] 2019 Oct 15; Vol. 15 (10), pp. e1007453. Date of Electronic Publication: 2019 Oct 15 (Print Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet

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