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
Preprint
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
Review

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
Preprint
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
Q. TESTARDJulien THEVENON
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
Review

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
Review
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
Preprint
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

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