Copy Number Variation

Copy number variation refers to alterations in the number of gene copies or DNA sequences. It can be a duplication, amplification, or a deletion event. Here is the latest research.

October 19, 2021
Open Access

Inferring copy number variation from gene expression data: methods, comparisons, and applications to oncology

BioRxiv : the Preprint Server for Biology
J. BoenNoemi Di Nanni
October 17, 2021

Assessing CAR T-cell therapy response using genome-wide sequencing of cell-free DNA in patients with B-cell lymphomas.

Transplantation and Cellular Therapy
Aaron M GoodmanRazelle Kurzrock
October 17, 2021

Deciphering the mechanisms underlying brain alterations and cognitive impairment in congenital myotonic dystrophy.

Neurobiology of Disease
Thiéry De Serres-BérardJack Puymirat
October 17, 2021

Loss of KDM1A in GIP-dependent primary bilateral macronodular adrenal hyperplasia with Cushing's syndrome: a multicentre, retrospective, cohort study.

The Lancet. Diabetes & Endocrinology
Fanny ChasseloupPeter Kamenický
October 16, 2021

sciCNV: high-throughput paired profiling of transcriptomes and DNA copy number variations at single-cell resolution.

Briefings in Bioinformatics
Ali Mahdipour-ShirayehRodger E Tiedemann
October 16, 2021
Open Access

Exome sequencing as a first-tier test for copy number variant detection : retrospective evaluation and prospective screening in 2418 cases.

MedRxiv : the Preprint Server for Health Sciences
October 15, 2021

[Prenatal diagnosis and early neonatal management of patients with hypoplastic left heart syndrome: Experience of a perinatal center].

Andes Pediatrica : Revista Chilena De Pediatría
María Paz Cubillos CelisPaula Vargas Innocenti
October 15, 2021

The resistance mechanisms and treatment strategies of BTK inhibitors in B-cell lymphoma.

Hematological Oncology
Haoran WangKeshu Zhou
October 15, 2021

Inflammatory and blood gas markers of COVID-19 delirium compared to non-COVID-19 delirium: a cross-sectional study.

Aging & Mental Health
Aman SainiJonathan P Rogers
October 15, 2021

Precise genomic deletions using paired prime editing.

Nature Biotechnology
Junhong ChoiJay Shendure
October 15, 2021
Open Access

Copy number variation: Characteristics, evolutionary and pathological aspects.

Biomedical Journal
Ondrej PösTomas Szemes
October 15, 2021

Application of expanded noninvasive prenatal test in prenatal diagnosis of fetuses with increased nuchal translucency.

The Journal of Maternal-fetal & Neonatal Medicine : the Official Journal of the European Association of Perinatal Medicine, the Federation of Asia and Oceania Perinatal Societies, the International Society of Perinatal Obstetricians
Xiaoxiao XieYuanguang Meng
October 15, 2021

Identification of critical ferroptosis regulators in lung adenocarcinoma that RRM2 facilitates tumor immune infiltration by inhibiting ferroptotic death.

Clinical Immunology : the Official Journal of the Clinical Immunology Society
Bufu TangJiansong Ji
October 14, 2021
Open Access

Nonadditive gene expression is correlated with nonadditive phenotypic expression in interspecific triploid hybrids of willow (Salix spp.)

BioRxiv : the Preprint Server for Biology
C. H. CarlsonLawrence B Smart

Sign up to follow this feed and discover related papers.

Related Feeds

AAV-based Gene Therapy

Adeno-associated virus (AAV)-based gene therapy is a biological vector that is being researched to be used as a potential therapeutic option. This gene therapy is designed to insert fragments of DNA into targeted cells to help treat diseases, such as hemophilia a. Discover the latest research on AAV-based gene therapy here.

ALS: Genetics

Amyotrophic Lateral Sclerosis (ALS) is a progressive neurodegenerative disorder characterized by muscle weakness. ALS is a genetically heterogeneous disorder with several causative genes. Here are the latest discoveries pertaining to the genetics of this disease.

Acute Myeloid Leukaemia & RNA

Acute myeloid leukaemia (AML) is a common hematological type of cancer. As the population ages, there has been a rise in the frequency of AML. RNA expression has been used to see if there are different genetic profiles that exist within AML and whether these may underpin the variations in survival rates. Here is the latest research on AML and RNA.

Alzheimer's Disease: Genetics

Alzheimer's disease is a neurodegenerative disease. Discover genetic and epigenetic aspects of Alzheimer’s disease, including genetic markers and genomic structural variations with this feed.

Antisense Oligonucleotide Therapies: ND

Antisense oligonucleotides are synthetic DNA oligomers that hybridize to a target RNA. This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases.

Antisense Oligonucleotides: ND

This feed focuses on antisense oligonucleotide therapies such as Inotersen, Nusinursen, and Patisiran, in neurodegenerative diseases including amyotrophic lateral sclerosis.

Birth Defects

Birth defects encompass structural and functional alterations that occur during embryonic or fetal development and are present since birth. The cause may be genetic, environmental or unknown and can result in physical and/or mental impairment. Here is the latest research on birth defects.

Breast Cancer: Risk Factors

Breast cancer is a multifactorial disease that is influenced by both environmental and genetic factors. Discover the latest research on the environmental and genetic risk factors for breast cancer here.

CREs: Gene & Cell Therapy

Gene and cell therapy advances have shown promising outcomes for several diseases. The role of cis-regulatory elements (CREs) is crucial in the design of gene therapy vectors. Here is the latest research on CREs in gene and cell therapy.

Cell-Type-Specific Viral Vectors

Viral vectors are used in biological research and therapy to deliver genetic material into cells. However, the efficiency of viral vectors varies depending on the cell type. Here is the latest research on cell-type-specific viral vectors.

© 2021 Meta ULC. All rights reserved