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.

July 3, 2020

A Role for Chromosomal Microarray Testing in the Workup of Male Infertility

The Journal of Molecular Diagnostics : JMD
Kelsey J McIntyreHeather Mason-Suares
July 2, 2020
Preprint
Open Access

TEARS: Spatial engineering of E. coli with addressable phase-separated RNAs

BioRxiv : the Preprint Server for Biology
H. GuoAriel B. Lindner
July 3, 2020
Preprint
Open Access

Stability of the pH-Dependent Parallel-Stranded d(CGA) Motif

BioRxiv : the Preprint Server for Biology
E. M. LuteranPaul Paukstelis
July 7, 2020

NCAPH is upregulated in endometrial cancer and associated with poor clinicopathologic characteristics

Annals of Human Genetics
Xiaofeng QiuHong Li
July 4, 2020
Preprint
Open Access

CRISPR/Cas9-based silencing of the ATXN1 gene in Spinocerebellar ataxia type 1 (SCA1) fibroblasts

BioRxiv : the Preprint Server for Biology
F. SalvatoriPeggy Marconi
July 2, 2020
Preprint
Open Access

Non-allelic homologous recombination of Alu and LINE-1 elements generates somatic complexity in human genomes.

BioRxiv : the Preprint Server for Biology
G. PascarellaPiero Carninci
July 3, 2020
Preprint
Open Access

Sample pooling on triplets to speed up SARS-CoV-2 diagnosis using CDC FDA EUA RT-qPCR kit.

MedRxiv : the Preprint Server for Health Sciences
B. Freire-PaspuelMiguel Angel Garcia Bereguiain
July 6, 2020
Open Access

Transcriptomic and cellular decoding of regional brain vulnerability to neurogenetic disorders

Nature Communications
Jakob SeidlitzArmin Raznahan
July 9, 2020
Open Access

Quantitative assessment of postural instability in spinocerebellar ataxia type 3 patients

Annals of Clinical and Translational Neurology
Xia-Hua LiuShi-Rui Gan

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