Chromosomal analysis in IVF: just how useful is it?

DK Griffin, C Ogur - Reproduction, 2018 - rep.bioscientifica.com
Designed to minimize chances of transferring genetically abnormal embryos,
preimplantation genetic diagnosis (PGD) involves in vitro fertilization (IVF), embryo biopsy …

Evaluation of a novel non-invasive preimplantation genetic screening approach

V Kuznyetsov, S Madjunkova, R Antes, R Abramov… - Plos one, 2018 - journals.plos.org
Objective To assess whether embryonic DNA isolated from blastocyst culture conditioned
medium (BCCM) combined with blastocoel fluid (BF) could be used for blastocyst stage non …

The performance of MALBAC and MDA methods in the identification of concurrent mutations and aneuploidy screening to diagnose beta‐thalassaemia disorders at …

WQ Liu, HM Zhang, D Hu, SJ Lu… - Journal of clinical …, 2018 - Wiley Online Library
Aim To select an optimal whole‐genome amplification (WGA) method to improve the
efficiency of the preimplantation genetic diagnosis and screening (PGD/PGS) of beta …

Systematic assessment of the performance of whole-genome amplification for SNP/CNV detection and β-thalassemia genotyping

F He, W Zhou, R Cai, T Yan, X Xu - Journal of Human Genetics, 2018 - nature.com
In this study, we aimed to assess the performance of two whole-genome amplification
methods, multiple displacement amplification (MDA), and multiple annealing and looping …

Comparison of single-cell whole-genome amplification strategies

N Estévez-Gómez, T Prieto, A Guillaumet-Adkins… - BioRxiv, 2018 - biorxiv.org
Single-cell genomics is an alluring area that holds the potential to change the way we
understand cell populations. Due to the small amount of DNA within a single cell, whole …

Novel Double Factor PGT strategy analyzing blastocyst stage embryos in a single NGS procedure

J Del Rey, F Vidal, L Ramírez, N Borràs, I Corrales… - PLoS …, 2018 - journals.plos.org
In families at risk from monogenic diseases affected offspring, it is fundamental the
development of a suitable Double Factor Preimplantation Genetic Testing (DF-PGT) method …

[HTML][HTML] Short tandem repeat analysis after whole genome amplification of single B-lymphoblastoid cells

L Deleye, AS Vander Plaetsen, J Weymaere… - Scientific reports, 2018 - nature.com
To allow multiple genetic analyses on a single cell, whole genome amplification (WGA) is
required. Unfortunately, studies comparing different WGA methods for downstream human …

Massively parallel sequencing of micro-manipulated cells targeting a comprehensive panel of disease-causing genes: A comparative evaluation of upstream whole …

L Deleye, Y Gansemans, D De Coninck… - PLoS …, 2018 - journals.plos.org
Single Gene Disorders (SGD) are still routinely diagnosed using PCR-based assays that
need to be developed and validated for each individual disease-specific gene fragment. The …

Genome-wide copy number alteration detection in preimplantation genetic diagnosis

L Deleye, D De Coninck, D Deforce… - … : Methods and Protocols, 2018 - Springer
Shallow whole genome sequencing has recently been introduced for genome-wide
detection of chromosomal copy number alterations (CNAs) in preimplantation genetic …

Human brain single nucleotide polymorphism: validation of DNA sequencing

ÁJ Picher, F Hernández, B Budeus… - Journal of …, 2018 - content.iospress.com
Genetic factors may be involved in the onset of neurodegenerative diseases like Alzheimer's
disease. In the case of the familial type, the disease is due to an inherited mutation at …