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Academic Journal

Whole exome sequencing identifies ABHD14A and MRNIP as novel candidate genes for developmental language disorder.

  • Authors : Bouzid A; Laboratory of Molecular and Cellular Screening Processes, Center of Biotechnology of Sfax, Sfax, Tunisia. .; Research Institute for Medical and Health Sciences, University of Sharjah, Sharjah, United Arab Emirates. .

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Genetic Predisposition to Disease*; Humans

  • Source: Scientific reports [Sci Rep] 2025 Jan 02; Vol. 15 (1), pp. 367. Date of Electronic Publication: 2025 Jan 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

Enhancing Clinical Applications by Evaluation of Sensitivity and Specificity in Whole Exome Sequencing.

  • Authors : Moon Y; Bioinformatics Analysis Team, Research Core Center, Research Institute, National Cancer Center, Goyang 10408, Gyeonggi-do, Republic of Korea.; Hong CH

Subjects: Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Sensitivity and Specificity*; Humans

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 10; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 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

Whole-exome profiles of inflammatory breast cancer and pathological response to neoadjuvant chemotherapy.

  • Authors : Bertucci F; Predictive Oncology Laboratory, Centre de Recherche en Cancérologie de Marseille (CRCM), Inserm, U1068, CNRS UMR7258, Institut Paoli-Calmettes, Aix-Marseille Université, 232, Boulevard de Sainte-Marguerite, 13009, Marseille, France. .; Department of Medical Oncology, Institut Paoli-Calmettes, Aix-Marseille Université, Marseille, France. .

Subjects: Neoadjuvant Therapy* ; Inflammatory Breast Neoplasms*/Inflammatory Breast Neoplasms*/Inflammatory Breast Neoplasms*/genetics ; Inflammatory Breast Neoplasms*/Inflammatory Breast Neoplasms*/Inflammatory Breast Neoplasms*/pathology

  • Source: Journal of translational medicine [J Transl Med] 2024 Oct 27; Vol. 22 (1), pp. 969. Date of Electronic Publication: 2024 Oct 27.Publisher: BioMed Central Country of Publication: England NLM ID: 101190741 Publication Model: Electronic Cited Medium: Internet ISSN: 1479-5876

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Academic Journal

A deep learning model for prediction of autism status using whole-exome sequencing data.

  • Authors : Wu Q; Department of Molecular Biology, Cell Biology and Biochemistry, Brown University, Providence, Rhode Island, United States of America.; Center for Translational Neuroscience, Robert J. and Nancy D. Carney Institute for Brain Science and Brown Institute for Translational Science, Brown University, Providence, Rhode Island, United States of America.

Subjects: Deep Learning* ; Autistic Disorder*/Autistic Disorder*/Autistic Disorder*/genetics ; Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods

  • Source: PLoS computational biology [PLoS Comput Biol] 2024 Nov 08; Vol. 20 (11), pp. e1012468. Date of Electronic Publication: 2024 Nov 08 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101238922 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Diagnostic yield of exome sequencing-based copy number variation analysis in Mendelian disorders: a clinical application.

Subjects: DNA Copy Number Variations* ; Exome Sequencing* ; Genetic Diseases, Inborn*/Genetic Diseases, Inborn*/Genetic Diseases, Inborn*/genetics

  • Source: BMC medical genomics [BMC Med Genomics] 2024 Sep 30; Vol. 17 (1), pp. 239. Date of Electronic Publication: 2024 Sep 30.Publisher: BioMed Central Country of Publication: England NLM ID: 101319628 Publication Model: Electronic Cited Medium: Internet ISSN: 1755-8794

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Academic Journal

Whole exome sequencing and polygenic assessment of a Swedish cohort with severe developmental language disorder

Subjects: Medicin och hälsovetenskap

  • Source: Human genetics. 143(2):169-183

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Academic Journal

Investigation of Exome-Wide Tumor Heterogeneity on Colorectal Tissue-Based Single Cells.

  • Authors : Szakállas N; Department of Biological Physics, Faculty of Science, Eötvös Loránd University, 1053 Budapest, Hungary.; Department of Internal Medicine and Oncology, Faculty of Medicine, Semmelweis University, 1085 Budapest, Hungary.

Subjects: Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/pathology ; Single-Cell Analysis*/Single-Cell Analysis*/Single-Cell Analysis*/methods

  • Source: International journal of molecular sciences [Int J Mol Sci] 2025 Jan 16; Vol. 26 (2). Date of Electronic Publication: 2025 Jan 16.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Whole-Exome Sequencing, Mutational Signature Analysis, and Outcome in Multiple Myeloma-A Pilot Study.

  • Authors : Oelschläger L; Department of Hematology and Oncology, University Medical Center Schleswig-Holstein (UKSH), University Cancer Center Schleswig-Holstein (UCCSH), Campus Lübeck, 23538 Lübeck, Germany.; Künstner A

Subjects: Multiple Myeloma*/Multiple Myeloma*/Multiple Myeloma*/genetics ; Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods ; Mutation*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Dec 14; Vol. 25 (24). Date of Electronic Publication: 2024 Dec 14.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Analysis of rare coding variants in 470,000 exome-sequenced subjects characterises contributions to risk of type 2 diabetes.

  • Authors : Curtis D; UCL, UCL Genetics Institute, London, United Kingdom.

Subjects: Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics ; Genetic Predisposition to Disease* ; Exome Sequencing*

  • Source: PloS one [PLoS One] 2024 Dec 12; Vol. 19 (12), pp. e0311827. Date of Electronic Publication: 2024 Dec 12 (Print Publication: 2024).Publisher: Public Library of Science Country of Publication: United States NLM ID: 101285081 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

Whole-exome sequencing and Drosophila modelling reveal mutated genes and pathways contributing to human ovarian failure.

  • Authors : Henarejos-Castillo I; IVI-RMA Global Research Alliance, IVI Foundation, Instituto de Investigación Sanitaria La Fe (IIS La Fe), Av. Fernando Abril Martorell 106, Valencia, 46026, Spain.; Department of Pediatrics, Obstetrics and Gynaecology, University of Valencia, Av. Blasco Ibáñez 15, Valencia, 46010, Spain.

Subjects: Primary Ovarian Insufficiency*/Primary Ovarian Insufficiency*/Primary Ovarian Insufficiency*/genetics ; Drosophila melanogaster*/Drosophila melanogaster*/Drosophila melanogaster*/genetics ; Exome Sequencing*/Exome Sequencing*/Exome Sequencing*/methods

  • Source: Reproductive biology and endocrinology : RB&E [Reprod Biol Endocrinol] 2024 Dec 04; Vol. 22 (1), pp. 153. Date of Electronic Publication: 2024 Dec 04.Publisher: BioMed Central Country of Publication: England NLM ID: 101153627 Publication Model: Electronic Cited Medium: Internet ISSN: 1477-7827

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  • 1-10 ل  140,422 نتائج ل ""Exome""