نتائج البحث

Precise identification of cancer cells from allelic imbalances in single cell transcriptomes

• Authors : Trinh, MK; Pacyna, CN; Kildisiute, G

Subjects: Allelic Imbalance; Genotype; Humans

• Source: Communications Biology , 5 (1) , Article 884. (2022) (In press).

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Single cell derived mRNA signals across human kidney tumors

• Authors : Young MD; Mitchell TJ; Custers L

• Source: Nature Communications, December 2021

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Blood and immune development in human fetal bone marrow and Down syndrome

• Authors : Jardine, L; Webb, S; Goh, I

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Single cell derived mRNA signals across human kidney tumors.

• Authors : Young, MD; Mitchell, TJ; Custers, L

• Source: Nature Communications , 12 , Article 3896. (2021)

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Finding Diagnostically Useful Patterns in Quantitative Phenotypic Data

• Authors : Aitken S; Firth HV; McRae J

• Source: American Journal of Human Genetics, 7 November 2019

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Finding diagnostically useful patterns in quantitative phenotypic data

• Authors : Aitken, Stuart; Firth, Helen V.; McRae, Jeremy

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Finding diagnostically useful patterns in quantitative phenotypic data

• Authors : Aitken, S; Firth, HV; McRae, J

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Large-scale discovery of novel genetic causes of developmental disorders

• Authors : Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D. ...

Subjects: Male; Parents; 0301 basic medicine

• Source: Nature

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Comparison of two chromogenic media for the detection of vancomycin-resistant enterococcal carriage by nursing home residents.

• Authors : Gouliouris, T; Blane, B; Brodrick, H

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Prevalence and architecture of de novo mutations in developmental disorders

• Authors : McRae, JF; Clayton, S; Fitzgerald, TW

• Source: Nature , 542 pp. 433-438. (2017)

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Prevalence, phenotype and architecture of developmental disorders caused by de novo mutation: The Deciphering Developmental Disorders Study

• Authors : McRae, JF; Clayton, S; Fitzgerald, TW

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Large-scale discovery of novel genetic causes of developmental disorders

• Authors : Fitzgerald, T.W.; Gerety, S.S.; Jones, W.D.

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Transcriptional signals of transformation in human cancer.

• Authors : Kildisiute G; Wellcome Sanger Institute, Wellcome Genome Campus, Hinxton, Cambridge, CB10 1SA, UK.; Kalyva M

Subjects: Liver Neoplasms*/Liver Neoplasms*/Liver Neoplasms*/genetics; Adult ; Humans

• Source: Genome medicine [Genome Med] 2024 Jan 09; Vol. 16 (1), pp. 8. Date of Electronic Publication: 2024 Jan 09.Publisher: BioMed Central Country of Publication: England NLM ID: 101475844 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-994X

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The zebrafish reference genome sequence and its relationship to the human genome

• Authors : Howe, K.; Clark, M. D.; Torroja, C. F.

Subjects: ddc:570; Life sciences; biology

• Source: Nature, 496, 498-503

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Large-scale discovery of novel genetic causes of developmental disorders

• Authors : Fitzgerald, TW; Gerety, SS; Jones, WD

Subjects: Journal Article

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Genetic diagnosis of developmental disorders in the DDD study: a scalable analysis of genome-wide research data

• Authors : Wright CF; Fitzgerald TW; Jones WD

• Source: The Lancet

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A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product

• Authors : Altmueller, Janine; Motameny, Susanne; Becker, Christian

Subjects: ddc:no; doc-type:article; publishedVersion

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A systematic comparison of two new releases of exome sequencing products: the aim of use determines the choice of product.

• Authors : Altmuller, Janine; Motameny, Susanne; Becker, Christian

Subjects: Base Sequence; DNA/genetics; Exome/genetics

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Prevalence and architecture of de novo mutations in developmental disorders

• Authors : McRae, Jeremy; Clayton, Stephen; Fitzgerald, Tomas W.

• Source: Deciphering Developmental Disorders Study, McRae, J, Clayton, S, Fitzgerald, T W, Kaplanis, J, Prigmore, E, Rajan, D, Sifrim, A, Aitken, S, Akawi, N, Alvi, M, Ambridge,

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Genetic diagnosis of developmental disorders in the DDD study:a scalable analysis of genome-wide research data

• Authors : Wright, Caroline F; Fitzgerald, Tomas W; Jones, Wendy D

• Source: Wright, C F, Fitzgerald, T W, Jones, W D, Clayton, S, McRae, J F, van Kogelenberg, M, King, D A, Ambridge, K, Barrett, D M, Bayzetinova,

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Single cell derived mRNA signals across human kidney tumors

• Authors : Groep Holstege; Pathologie Pathologen staf; Speerpunt

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