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Academic Journal

Long read sequencing on its way to the routine diagnostics of genetic diseases

Subjects: RNA sequencing; genetic diseases; long read sequencing

  • Source: Front GenetFrontiers in Genetics, Vol 15 (2024)

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Academic Journal

Exome sequencing in routine diagnostics: a generic test for 254 patients with primary immunodeficiencies: a generic test for 254 patients with primary immunodeficiencies

Subjects: Exome sequencing; Male; Primary immunodeficiencies

  • Source: Genome MedGenome Medicine, Vol 11, Iss 1, Pp 1-15 (2019)Genome Medicine, 11, 1Genome Medicine

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Academic Journal

Detection of leukemia gene fusions by targeted RNA-sequencing in routine diagnostics

Subjects: 0303 health sciences; Leukemia; Oncogene Proteins, Fusion

  • Source: BMC Med GenomicsBMC Medical Genomics, Vol 13, Iss 1, Pp 1-12 (2020)

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Academic Journal

Genome-wide methylation profiling of Beckwith-Wiedemann syndrome patients without molecular confirmation after routine diagnostics

Subjects: Male; 0301 basic medicine; Beckwith-Wiedemann Syndrome

  • Source: Clin EpigeneticsClinical Epigenetics, Vol 11, Iss 1, Pp 1-12 (2019)

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Academic Journal

True-T – Improving T-cell response quantification with holistic artificial intelligence based prediction in immunohistochemistry images

Subjects: Artificial intelligence; Biophysics; Biochemistry

  • Source: Comput Struct Biotechnol JMakhlouf, Y, Singh, V K, Craig, S, McArdle, A, French, D, Loughrey, M B, Oliver, N, Acevedo, J B, O'Reilly, P, James, J A, Maxwell, P & Salto-Tellez, M 2024, ' True-T

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Academic Journal

Small supernumerary marker chromosomes derived from chromosome 14 and/or 22

Subjects: Postnatal; Chromosome 22; 0303 health sciences

  • Source: Mol CytogenetMolecular Cytogenetics, Vol 14, Iss 1, Pp 1-7 (2021)

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Academic Journal

Clinical implementation of RNA sequencing for Mendelian disease diagnostics

Subjects: 0301 basic medicine; Genetic diagnostics; VARIANTS

  • Source: Genome MedGenome Medicine, Vol 14, Iss 1, Pp 1-26 (2022)Genome medicine 14(1), 38 (2022). doi:10.1186/s13073-022-01019-9Genome Medicine, 14, 1Genome Med. 14:38 (2022)

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Academic Journal

IGHV Mutational Status in a Cohort of Bulgarian CLL Patients: High Unmutated CLL Prevalence in North-East Bulgaria

Subjects: multiple rearrangements; Genetics; Original Article

  • Source: Balkan J Med GenetBalkan Journal of Medical Genetics, Vol 27, Iss 1, Pp 15-19 (2024)

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Academic Journal

Identification of novel 3D-genome altering and complex structural variants underlying retinitis pigmentosa type 17 through a multistep and high-throughput approach

Subjects: gene diagnostics; retinitis pigmentosa; inherited retinal dystrophies

  • Source: Front GenetFrontiers in Genetics, Vol 15 (2024)Frontiers in Genetics, 15

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Academic Journal

Combining a prioritization strategy and functional studies nominates 5’UTR variants underlying inherited retinal disease

Subjects: Non-coding variation; c-Mer Tyrosine Kinase; 5'untranslated region (5'UTR)

  • Source: Genome MedGenome Medicine, Vol 16, Iss 1, Pp 1-21 (2024)Genomics England Research Consortium 2024, ' Combining a prioritization strategy and functional studies nominates 5'UTR variants

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  • 1-10 of  37 results for ""routine diagnostics""