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Editorial & Opinion

Unravelling the genetic basis for skeletal muscle mitochondrial DNA copy number variations in pigs.

  • Authors : Yang J; National Key Laboratory for Swine Genetic Improvement and Germplasm Innovation, Jiangxi Agricultural University, Nanchang, 330045, China.; Cui L

Subjects: DNA Copy Number Variations* ; Mitochondria*/Mitochondria*/Mitochondria*/genetics; Animals

  • Source: Science China. Life sciences [Sci China Life Sci] 2024 Jan; Vol. 67 (1), pp. 211-214. Date of Electronic Publication: 2023 Oct 25.Publisher: Science China Press, co-published with Springer Country of Publication: China NLM ID: 101529880 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Copy number and selection of MHC genes in ruminants are related to habitat, average life span and diet.

  • Authors : He K; College of Animal Science and Technology, College of Veterinary Medicine, Zhejiang Agriculture and Forestry University, Key Laboratory of Applied Technology on Green-Eco-Healthy Animal Husbandry of Zhejiang Province, Hangzhou, China.; Liang C

Subjects: Longevity* ; DNA Copy Number Variations*; Animals

  • Source: Gene [Gene] 2024 Apr 30; Vol. 904, pp. 148179. Date of Electronic Publication: 2024 Jan 18.Publisher: Elsevier/North-Holland Country of Publication: Netherlands NLM ID: 7706761 Publication Model: Print-Electronic Cited Medium: Internet

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Academic Journal

[Efficiency of CNV-seq in detecting fetal DMD gene deletion or duplication in prenatal diagnosis].

  • Authors : Qiu X; Department of Medical Genetics, NHC Key Laboratory of Health Birth and Birth Defect Prevention in Western China, Yunnan Provincial Key Laboratory for Birth Defects and Genetic Diseases, Affiliated Hospital of Kunming University of Science and Technology, the First People's Hospital of Yunnan Province, Kunming 650032, China.; Guo JJ

Subjects: DNA Copy Number Variations* ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/diagnosis ; Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/Muscular Dystrophy, Duchenne*/genetics

  • Source: Zhonghua fu chan ke za zhi [Zhonghua Fu Chan Ke Za Zhi] 2024 Apr 25; Vol. 59 (4), pp. 279-287.Publisher: Chinese Medical Association Country of Publication: China NLM ID: 16210370R Publication Model: Print Cited Medium: Print ISSN:

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Academic Journal

A method to correct for local alterations in DNA copy number that bias functional genomics assays applied to antibiotic-treated bacteria.

  • Authors : Sullivan GJ; ARC Centre of Excellence in Synthetic Biology, School of Natural Sciences, Macquarie University, Sydney, Australia.; Barquist L

Subjects: Anti-Bacterial Agents*/Anti-Bacterial Agents*/Anti-Bacterial Agents*/pharmacology ; DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics; Genomics/Genomics/Genomics/methods

  • Source: MSystems [mSystems] 2024 Apr 16; Vol. 9 (4), pp. e0066523. Date of Electronic Publication: 2024 Mar 12.Publisher: American Society for Microbiology Country of Publication: United States NLM ID: 101680636 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Understanding genetic variability: exploring large-scale copy number variants through non-invasive prenatal testing in European populations.

Subjects: DNA Copy Number Variations* ; Cell-Free Nucleic Acids*; Pregnancy

  • Source: BMC genomics [BMC Genomics] 2024 Apr 15; Vol. 25 (1), pp. 366. Date of Electronic Publication: 2024 Apr 15.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

RAS/RAF Comutation and ERBB2 Copy Number Modulates HER2 Heterogeneity and Responsiveness to HER2-directed Therapy in Colorectal Cancer.

  • Authors : Singh H; Dana-Farber Brigham and Women's Cancer Center, Department of Medical Oncology, Dana-Farber Cancer Institute and Harvard Medical School, Boston, Massachusetts.; Sahgal P

Subjects: DNA Copy Number Variations* ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/drug therapy ; Colorectal Neoplasms*/Colorectal Neoplasms*/Colorectal Neoplasms*/genetics

  • Source: Clinical cancer research : an official journal of the American Association for Cancer Research [Clin Cancer Res] 2024 Apr 15; Vol. 30 (8), pp. 1669-1684.Publisher: The Association Country of Publication: United States NLM ID: 9502500 Publication Model: Print Cited Medium: Internet ISSN: 1557-3265

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Academic Journal

Putative climate adaptation in American pikas (Ochotona princeps) is associated with copy number variation across environmental gradients.

  • Authors : Sjodin BMF; Department of Biology, The University of British Columbia, 3247 University Way, Kelowna, BC, V1V 1V7, Canada.; Schmidt DA

Subjects: DNA Copy Number Variations* ; Lagomorpha*/Lagomorpha*/Lagomorpha*/genetics; United States

  • Source: Scientific reports [Sci Rep] 2024 Apr 13; Vol. 14 (1), pp. 8568. Date of Electronic Publication: 2024 Apr 13.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

Genome-wide analysis to uncover how Pocillopora acuta survives the challenging intertidal environment.

  • Authors : Poquita-Du RC; Experimental Marine Ecology Laboratory, S3 Level 2, Department of Biological Sciences, National University of Singapore, 16 Science Drive 4, Singapore, 117558, Singapore. .; Huang D

Subjects: DNA Copy Number Variations* ; Anthozoa*/Anthozoa*/Anthozoa*/genetics; Humans

  • Source: Scientific reports [Sci Rep] 2024 Apr 12; Vol. 14 (1), pp. 8538. Date of Electronic Publication: 2024 Apr 12.Publisher: Nature Publishing Group Country of Publication: England NLM ID: 101563288 Publication Model: Electronic Cited Medium: Internet ISSN:

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Academic Journal

[Prenatal diagnosis of fetal microdeletion and microduplication syndromes among pregnant women with advanced maternal ages].

  • Authors : Duan F; Prenatal Diagnosis Center, Xiamen University Affiliated Women and Children's Hospital, Xiamen, Fujian 361000, China. .; Wu Q

Subjects: Pregnant Women* ; DNA Copy Number Variations*; Child

  • Source: Zhonghua yi xue yi chuan xue za zhi = Zhonghua yixue yichuanxue zazhi = Chinese journal of medical genetics [Zhonghua Yi Xue Yi Chuan Xue Za Zhi] 2024 Apr 10; Vol. 41 (4), pp. 486-493.Publisher: Sichuan University Country of Publication: China NLM ID: 9425197 Publication Model: Print Cited Medium: Print ISSN: 1003-9406 (Print)

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Academic Journal

The yield of SNP microarray analysis for fetal ultrasound cardiac abnormalities.

  • Authors : Ye F; Department of Reproductive Endocrinology, Key Laboratory of Reproductive Genetics of National Ministry of Education, Women's Hospital, School of Medicine, Zhejiang University, 1 Xueshi Road, Hangzhou, 310000, China.; Department of Obstetrics, Lishui Maternal and Child Health Hospital, Lishui, 323000, China.

Subjects: DNA Copy Number Variations* ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/diagnostic imaging ; Heart Defects, Congenital*/Heart Defects, Congenital*/Heart Defects, Congenital*/genetics

  • Source: BMC pregnancy and childbirth [BMC Pregnancy Childbirth] 2024 Apr 05; Vol. 24 (1), pp. 244. Date of Electronic Publication: 2024 Apr 05.Publisher: BioMed Central Country of Publication: England NLM ID: 100967799 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2393

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Academic Journal

Hfq-Antisense RNA I Binding Regulates RNase E-Dependent RNA Stability and ColE1 Plasmid Copy Number.

  • Authors : Wang WS; Molecular and Cell Biology, Taiwan International Graduate Program, Academia Sinica and Graduate Institute of Life Science, National Defense Medical Center, Taipei 11490, Taiwan.; Institute of Molecular Medicine, College of Medicine, National Taiwan University, Taipei 10002, Taiwan.

Subjects: RNA, Antisense*/RNA, Antisense*/RNA, Antisense*/genetics ; DNA Copy Number Variations* ; Endoribonucleases*

  • Source: International journal of molecular sciences [Int J Mol Sci] 2024 Apr 02; Vol. 25 (7). Date of Electronic Publication: 2024 Apr 02.Publisher: MDPI Country of Publication: Switzerland NLM ID: 101092791 Publication Model: Electronic Cited Medium: Internet ISSN: 1422-0067

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Academic Journal

Malformations of cortical development: Fetal imaging and genetics.

  • Authors : Wang LL; Department of Obstetrics and Gynecology, The First Affiliated Hospital of Jinan University, Guangzhou, Guangdong, China.; Prenatal Diagnosis Center, Maternal & Child Health Hospital of Guangxi Zhuang Autonomous Region, Nanning, Guangxi, China.

Subjects: DNA Copy Number Variations* ; Prenatal Diagnosis*/Prenatal Diagnosis*/Prenatal Diagnosis*/methods; Pregnancy

  • Source: Molecular genetics & genomic medicine [Mol Genet Genomic Med] 2024 Apr; Vol. 12 (4), pp. e2440.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 101603758 Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy.

  • Authors : Fehlings DL; Division of Developmental Paediatrics, Holland Bloorview Kids Rehabilitation Hospital, Toronto, Ontario, Canada.; Department of Paediatrics, Faculty of Medicine, University of Toronto, Toronto, Ontario, Canada.

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Cerebral Palsy*/Cerebral Palsy*/Cerebral Palsy*/genetics; Humans

  • Source: Nature genetics [Nat Genet] 2024 Apr; Vol. 56 (4), pp. 585-594. Date of Electronic Publication: 2024 Mar 29.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Protein-altering variants at copy number-variable regions influence diverse human phenotypes.

  • Authors : Hujoel MLA; Division of Genetics, Department of Medicine, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. .; Center for Data Sciences, Brigham and Women's Hospital and Harvard Medical School, Boston, MA, USA. .

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/Diabetes Mellitus, Type 2*/genetics; Humans

  • Source: Nature genetics [Nat Genet] 2024 Apr; Vol. 56 (4), pp. 569-578. Date of Electronic Publication: 2024 Mar 28.Publisher: Nature Pub. Co Country of Publication: United States NLM ID: 9216904 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

The copy number of the eukaryotic rRNA gene can be counted comprehensively.

  • Authors : Yabuki A; Research Institute for Global Change, Japan Agency for Marine-Earth Science and Technology, Yokosuka, Kanagawa, Japan.; Advanced Institute for Marine Ecosystem Change (WPI-AIMEC), Yokosuka, Kanagawa, Japan.

Subjects: DNA Copy Number Variations* ; Microbiota*; Genes, rRNA

  • Source: MicrobiologyOpen [Microbiologyopen] 2024 Apr; Vol. 13 (2), pp. e1399.Publisher: Wiley-Blackwell Country of Publication: England NLM ID: 101588314 Publication Model: Print Cited Medium: Internet ISSN: 2045-8827

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Academic Journal

A state-of-the-science review of using mitochondrial DNA copy number as a biomarker for environmental exposure.

  • Authors : Cheng Q; College of Resources and Environment, Southwest University, Chongqing, 400715, People's Republic of China.; Liu QQ

Subjects: DNA, Mitochondrial*/DNA, Mitochondrial*/DNA, Mitochondrial*/genetics ; DNA Copy Number Variations*; Mouth Mucosa

  • Source: Environmental pollution (Barking, Essex : 1987) [Environ Pollut] 2024 Apr 01; Vol. 346, pp. 123642. Date of Electronic Publication: 2024 Feb 23.Publisher: Elsevier Applied Science Publishers Country of Publication: England NLM ID: 8804476 Publication Model: Print-Electronic Cited Medium:

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Academic Journal

Molecular and in silico investigation of a novel ECHS1 gene mutation in a consanguine family with short-chain enoyl-CoA hydratase deficiency and Mt-DNA depletion: effect on trimer assembly and catalytic activity.

  • Authors : Maalej M; Laboratory of Molecular and Functional Genetics, Faculty of Sciences, University of Sfax, Sfax, 3000, Tunisia. .; Sfaihi L

Subjects: DNA Copy Number Variations* ; Metabolism, Inborn Errors*; Humans

  • Source: Metabolic brain disease [Metab Brain Dis] 2024 Apr; Vol. 39 (4), pp. 611-623. Date of Electronic Publication: 2024 Feb 16.Publisher: Springer Country of Publication: United States NLM ID: 8610370 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Exploring the factors affecting classification and reporting of uncertain prenatal microarray findings, using a "virtual fetus" model-a pilot study.

  • Authors : Michaelson-Cohen R; Faculty of Medicine, Medical Genetics Institute, Shaare Zedek Medical Center, Hebrew University of Jerusalem, Jerusalem, Israel.; Salzer LS

Subjects: Fetus* ; DNA Copy Number Variations*; Female

  • Source: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 511-518. Date of Electronic Publication: 2024 Feb 14.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Academic Journal

Validation of low-pass genome sequencing for prenatal diagnosis.

  • Authors : Mighton C; Division of Diagnostic Medical Genetics, Department of Pathology and Lab Medicine, Mount Sinai Hospital, Toronto, Ontario, Canada.; Institute of Health Policy Management, and Evaluation, Dalla Lana School of Public Health, University of Toronto, Toronto, Ontario, Canada.

Subjects: Prenatal Diagnosis* ; DNA Copy Number Variations*; Pregnancy

  • Source: Prenatal diagnosis [Prenat Diagn] 2024 Apr; Vol. 44 (4), pp. 443-453. Date of Electronic Publication: 2024 Jan 27.Publisher: Wiley Country of Publication: England NLM ID: 8106540 Publication Model: Print-Electronic Cited Medium: Internet ISSN: 1097-0223

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Academic Journal

Determination for KIR genotype and allele copy number via real-time quantitative PCR method.

  • Authors : Tao S; Blood Center of Zhejiang Province, Key Laboratory of Blood Safety Research of Zhejiang Province, Hangzhou, Zhejiang, People's Republic of China.; You X

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Receptors, KIR*/Receptors, KIR*/Receptors, KIR*/genetics; Humans

  • Source: Immunogenetics [Immunogenetics] 2024 Apr; Vol. 76 (2), pp. 137-143. Date of Electronic Publication: 2024 Jan 11.Publisher: Springer Verlag Country of Publication: United States NLM ID: 0420404 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Bioinformatics analyses and experimental validation of the role of phagocytosis in low-grade glioma.

  • Authors : Fei M; Department of Neurosurgery, First Affiliated Hospital of Dalian Medical University, Dalian, Liaoning, China.; Lu C

Subjects: DNA Copy Number Variations* ; Glioma*/Glioma*/Glioma*/genetics; Humans

  • Source: Environmental toxicology [Environ Toxicol] 2024 Apr; Vol. 39 (4), pp. 2182-2196. Date of Electronic Publication: 2023 Dec 19.Publisher: John Wiley & Sons Country of Publication: United States NLM ID: 100885357 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

High Comorbidity of Pediatric Cancers in Patients with Birth Defects: Insights from Whole Genome Sequencing Analysis of Copy Number Variations.

  • Authors : Qu HQ; Center for Applied Genomics (CAG), Children's Hospital of Philadelphia, Philadelphia, Pennsylvania, 19104, USA.; Glessner JT

Subjects: DNA Copy Number Variations*/DNA Copy Number Variations*/DNA Copy Number Variations*/genetics ; Neoplasms*/Neoplasms*/Neoplasms*/epidemiology ; Neoplasms*/Neoplasms*/Neoplasms*/genetics

  • Source: Translational research : the journal of laboratory and clinical medicine [Transl Res] 2024 Apr; Vol. 266, pp. 49-56. Date of Electronic Publication: 2023 Nov 19.Publisher: Elsevier Country of Publication: United States NLM ID: 101280339 Publication Model: Print-Electronic Cited Medium: Internet ISSN:

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Academic Journal

Biomarker Potential of LINC00313 in Head and Neck Squamous Cell Carcinoma: Correlation with Epithelial-Mesenchymal Transition and Immune Cell Infiltration.

  • Authors : Ju Y; Department of Plastic and Aesthetic (Burn) Surgery, the Second Xiangya Hospital, Central South University, Changsha, Hunan, China.; Zhu F

Subjects: DNA Copy Number Variations* ; Head and Neck Neoplasms*/Head and Neck Neoplasms*/Head and Neck Neoplasms*/genetics; Humans

  • Source: International journal of medical sciences [Int J Med Sci] 2024 Mar 31; Vol. 21 (5), pp. 921-936. Date of Electronic Publication: 2024 Mar 31 (Print Publication: 2024).Publisher: Ivyspring International Publisher Country of Publication: Australia NLM ID: 101213954 Publication Model: eCollection Cited Medium: Internet

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Academic Journal

A rapid PCR-free next-generation sequencing method for comprehensive diagnosis of chromosome disease syndromes in prenatal samples.

  • Authors : Su H; Department of Obstetrics, Kunming Maternal and Child Care Hospital, Kunming, Yunnan, China.; Liu S

Subjects: DNA Copy Number Variations* ; Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/diagnosis ; Chromosome Disorders*/Chromosome Disorders*/Chromosome Disorders*/genetics

  • Source: Medicine [Medicine (Baltimore)] 2024 Mar 29; Vol. 103 (13), pp. e37610.Publisher: Lippincott Williams & Wilkins Country of Publication: United States NLM ID: 2985248R Publication Model: Print Cited Medium: Internet ISSN:

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Academic Journal

Comparison of structural variant callers for massive whole-genome sequence data.

  • Authors : Joe S; Korea Bioinformation Center (KOBIC), Korea Research Institute of Bioscience and Biotechnology (KRIBB), Daejeon, 34141, Republic of Korea.; Park JL

Subjects: DNA Copy Number Variations* ; Genomics*; Humans

  • Source: BMC genomics [BMC Genomics] 2024 Mar 28; Vol. 25 (1), pp. 318. Date of Electronic Publication: 2024 Mar 28.Publisher: BioMed Central Country of Publication: England NLM ID: 100965258 Publication Model: Electronic Cited Medium: Internet ISSN: 1471-2164

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  • 1-25 of  23,743 results for ""DNA copy number variations""