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Academic Journal

Genome sequencing reveals novel causative structural and single nucleotide variants in Pakistani families with congenital hypogonadotropic hypogonadism.

  • Authors : Zouaghi Y; University of Lausanne, Lausanne, Switzerland.; Service of Endocrinology, Diabetology and Metabolism, Lausanne University Hospital, Avenue de La Sallaz 8, Lausanne, CH-1011, Switzerland.

Subjects: Hypogonadism*/Hypogonadism*/Hypogonadism*/genetics ; Polymorphism, Single Nucleotide* ; Pedigree*

  • Source: BMC genomics [BMC Genomics] 2024 Aug 14; Vol. 25 (1), pp. 787. Date of Electronic Publication: 2024 Aug 14.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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Academic Journal

Comprehensive analysis of flavohemoprotein copy number variation in Giardia intestinalis: exploring links to metronidazole resistance.

  • Authors : Korenková V; Institute of Immunology and Microbiology, 1st Faculty of Medicine, Charles University, Prague, Czech Republic. .; Weisz F

Subjects: Giardia lamblia*/Giardia lamblia*/Giardia lamblia*/genetics ; Giardia lamblia*/Giardia lamblia*/Giardia lamblia*/drug effects ; DNA Copy Number Variations*

  • Source: Parasites & vectors [Parasit Vectors] 2024 Aug 10; Vol. 17 (1), pp. 336. Date of Electronic Publication: 2024 Aug 10.Publisher: BioMed Central Country of Publication: England NLM ID: 101462774 Publication Model: Electronic Cited Medium: Internet ISSN: 1756-3305

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Academic Journal

Binary classification of copy number alteration profiles in liquid biopsy with potential clinical impact in advanced NSCLC.

  • Authors : Tosello V; Basic and Translational Oncology Unit, Veneto Institute of Oncology IOV-IRCCS, Padua, Italy.; Grassi A

Subjects: Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/genetics ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/drug therapy ; Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/Carcinoma, Non-Small-Cell Lung*/pathology

  • Source: Scientific reports [Sci Rep] 2024 Aug 09; Vol. 14 (1), pp. 18545. Date of Electronic Publication: 2024 Aug 09.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

De novo genome assembly of white clover (Trifolium repens L.) reveals the role of copy number variation in rapid environmental adaptation.

  • Authors : Kuo WH; Department of Biology, Washington University in St. Louis, St. Louis, MO, 63130, USA.; Wright SJ

Subjects: DNA Copy Number Variations* ; Genome, Plant* ; Trifolium*/Trifolium*/Trifolium*/genetics

  • Source: BMC biology [BMC Biol] 2024 Aug 07; Vol. 22 (1), pp. 165. Date of Electronic Publication: 2024 Aug 07.Publisher: BioMed Central Country of Publication: England NLM ID: 101190720 Publication Model: Electronic Cited Medium: Internet ISSN: 1741-7007

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Academic Journal

Functional Copy-Number Alterations as Diagnostic and Prognostic Biomarkers in Neuroendocrine Tumors.

  • Authors : Vaughn H; Interdisciplinary Graduate Program in Genetics, University of Iowa, Iowa City, IA 52242, USA.; Stead Family Department of Pediatrics, University of Iowa Health Care, Iowa City, IA 52242, USA.

Subjects: Neuroendocrine Tumors*/Neuroendocrine Tumors*/Neuroendocrine Tumors*/genetics ; Neuroendocrine Tumors*/Neuroendocrine Tumors*/Neuroendocrine Tumors*/diagnosis ; Neuroendocrine Tumors*/Neuroendocrine Tumors*/Neuroendocrine Tumors*/pathology

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Jul 09; Vol. 25 (14). Date of Electronic Publication: 2024 Jul 09.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

High positive predictive value of CNVs detected by clinical exome sequencing in suspected genetic diseases.

  • Authors : Zeng Y; Medical Genetics Center, Guangdong Women and Children Hospital, Xingnan Road 521, Guangzhou, 510010, Guangdong, China.; Maternal and Children Metabolic-Genetic Key Laboratory, Guangdong Women and Children Hospital, Guangzhou, China.

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

  • Source: Journal of translational medicine [J Transl Med] 2024 Jul 09; Vol. 22 (1), pp. 644. Date of Electronic Publication: 2024 Jul 09.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

Copy number and sequence variation in rDNA of Daphnia pulex from natural populations: insights from whole-genome sequencing.

  • Authors : Elguweidi A; Department of Integrative Biology, University of Guelph, Guelph, ON, N1G2W1, Canada.; Crease T

Subjects: Daphnia*/Daphnia*/Daphnia*/genetics ; DNA Copy Number Variations* ; DNA, Ribosomal*/DNA, Ribosomal*/DNA, Ribosomal*/genetics

  • Source: G3 (Bethesda, Md.) [G3 (Bethesda)] 2024 Jul 08; Vol. 14 (7).Publisher: Oxford University Press Country of Publication: England NLM ID: 101566598 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Comparison of the diagnostic significance of cerebrospinal fluid metagenomic next-generation sequencing copy number variation analysis and cytology in leptomeningeal malignancy.

  • Authors : Zhang L; Department of Neurology, Peking Union Medical College Hospital, Chinese Academy of Medical Sciences and Peking Union Medical College, Beijing, 100730, China.; Fang K

Subjects: Meningeal Neoplasms*/Meningeal Neoplasms*/Meningeal Neoplasms*/cerebrospinal fluid ; Meningeal Neoplasms*/Meningeal Neoplasms*/Meningeal Neoplasms*/genetics ; Meningeal Neoplasms*/Meningeal Neoplasms*/Meningeal Neoplasms*/diagnosis

  • Source: BMC neurology [BMC Neurol] 2024 Jun 28; Vol. 24 (1), pp. 223. Date of Electronic Publication: 2024 Jun 28.Publisher: BioMed Central Country of Publication: England NLM ID: 100968555 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2377

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Academic Journal

rtestim: Time-varying reproduction number estimation with trend filtering.

  • Authors : Liu J; Department of Statistics, The University of British Columbia, Vancouver, British Columbia, Canada.; Cai Z

Subjects: Algorithms* ; Basic Reproduction Number*; Humans

  • Source: PLoS computational biology [PLoS Comput Biol] 2024 Aug 06; Vol. 20 (8), pp. e1012324. Date of Electronic Publication: 2024 Aug 06 (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

A model-free and distribution-free multi-omics integration approach for detecting novel lung adenocarcinoma genes.

  • Authors : Zhao S; Binghamton University, Department of Mathematics and Statistics, Binghamton, NY, 13902, USA. .; Qi C

Subjects: Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/Adenocarcinoma of Lung*/genetics ; DNA Copy Number Variations* ; Lung Neoplasms*/Lung Neoplasms*/Lung Neoplasms*/genetics

  • Source: Scientific reports [Sci Rep] 2024 Aug 03; Vol. 14 (1), pp. 17996. Date of Electronic Publication: 2024 Aug 03.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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