[HTML][HTML] The inconsistency between two major aneuploidy-screening platforms—single-nucleotide polymorphism array and next-generation sequencing—in the …
D Chen, Y Xu, C Ding, Y Wang, Y Fu, B Cai, J Wang… - BMC genomics, 2022 - Springer
Background In preimplantation genetic testing for aneuploidy (PGT-A), appropriate
evaluation of mosaic embryos is important because of the adverse implications of …
evaluation of mosaic embryos is important because of the adverse implications of …
[HTML][HTML] Comprehensive characterization of copy number variation (CNV) called from array, long-and short-read data
K Lavrichenko, S Johansson, I Jonassen - BMC genomics, 2021 - Springer
Background SNP arrays, short-and long-read genome sequencing are genome-wide high-
throughput technologies that may be used to assay copy number variants (CNVs) in a …
throughput technologies that may be used to assay copy number variants (CNVs) in a …
[HTML][HTML] Improving copy number variant detection from sequencing data with a combination of programs and a predictive model
S Välipakka, M Savarese, L Sagath, M Arumilli… - The Journal of Molecular …, 2020 - Elsevier
Bioinformatics tools for analyzing copy number variants (CNVs) from massively parallel
sequencing (MPS) data are less well developed compared with other variant types. We …
sequencing (MPS) data are less well developed compared with other variant types. We …
[HTML][HTML] Impact of short-read sequencing on the misassembly of a plant genome
Background Availability of plant genome sequences has led to significant advances.
However, with few exceptions, the great majority of existing genome assemblies are derived …
However, with few exceptions, the great majority of existing genome assemblies are derived …
[HTML][HTML] Signatures of discriminative copy number aberrations in 31 cancer subtypes
B Gao, M Baudis - Frontiers in genetics, 2021 - frontiersin.org
Copy number aberrations (CNA) are one of the most important classes of genomic mutations
related to oncogenetic effects. In the past three decades, a vast amount of CNA data has …
related to oncogenetic effects. In the past three decades, a vast amount of CNA data has …
CNVIntegrate: the first multi-ethnic database for identifying copy number variations associated with cancer
Human copy number variations (CNVs) and copy number alterations (CNAs) are DNA
segments (> 1000 base pairs) of duplications or deletions with respect to the reference …
segments (> 1000 base pairs) of duplications or deletions with respect to the reference …
Easy one-step amplification and labeling procedure for copy number variation detection
S Blesa, MD Olivares, AS Alic, A Serrano… - Clinical …, 2020 - academic.oup.com
Background The specific characteristics of copy number variations (CNVs) require specific
methods of detection and characterization. We developed the Easy One-Step Amplification …
methods of detection and characterization. We developed the Easy One-Step Amplification …
SeeCiTe: a method to assess CNV calls from SNP arrays using trio data
K Lavrichenko, Ø Helgeland, PR Njølstad… - …, 2021 - academic.oup.com
Motivation Single nucleotide polymorphism (SNP) genotyping arrays remain an attractive
platform for assaying copy number variants (CNVs) in large population-wide cohorts …
platform for assaying copy number variants (CNVs) in large population-wide cohorts …
A study of normal copy number variations in Israeli population
I Maya, P Smirin-Yosef, S Kahana, S Morag… - Human Genetics, 2021 - Springer
The population of Israel is ethnically diverse, and individuals from different ethnic groups
share specific genetic variations. These variations, which have been passed on from …
share specific genetic variations. These variations, which have been passed on from …
[图书][B] Laboratory Techniques in Cellular and Molecular Medicine
K Agrawal, J Bouchal, DAS VISWANATH - 2021 - researchgate.net
Cell lines are used in many areas of the basic and applied research. They can be developed
in-house, acquired from another laboratory or purchased from the cell bank (1). Cell lines …
in-house, acquired from another laboratory or purchased from the cell bank (1). Cell lines …