Cindy Duarte Castelão

Cindy received a Biomedical degree in 2011, and a MsC in Molecular Biology and Genetics in 2011. Her career so far has been in the Molecular Genetics field, working closely with deep-sequencing techniques, and how these techniques can help to unveil the secrets of the genome and epigenome. Join me in uncovering the mystery. Publications by Cindy Duarte Castelão

Articles by Cindy Duarte Castelão:

Multiplex Ligation-dependent Probe Amplification (MLPA)

Multiplex ligation-dependent probe amplification (MLPA) is a molecular technique developed by MRC-Holland back in 2002. In a nutshell, MLPA is a sensitive technique that allows quantification of nucleic acid sequences, quickly and efficiently. It is performed in many laboratories worldwide, and can be applied to detect copy number changes (like deletions or duplications) of a…

27 Dec 2018 DNA / RNA Manipulation and Analysis&PCR, qPCR and qRT-PCR&Qiagen

Studying the Epigenome by Next Generation Sequencing

The epigenome has been in the research spotlight, and for good reason. Not only has it been associated with the developmental stages of an organism, but epigenetic alterations lead to disorders and have been linked to many human diseases. So, the question stands: what exactly is an epigenome? What Is the Epigenome? Simply put, the…

14 Dec 2018 Genomics and Epigenetics

Using dbSNP and ClinVar to Classify Gene Variants

As we discussed previously, the gaps in our understanding of the human genome make variant classification an extremely difficult job. However, with each passing day our knowledge increases, and the tools to help us become increasingly more efficient. Let’s pick up where we left off in our first article about variants. After checking Ensemble to…

18 Oct 2018 Genomics and Epigenetics

A Beginner’s Guide to Single-Cell RNA Sequencing

Since our early steps in Science we have been told that every cell in our body has the exact same genetic information (minus one or two alterations). Therefore, the great variety of cells in our body comes from gene expression – each cell must express one set of genes and repress another set to function…

18 May 2018 Genomics and Epigenetics

How to Use Ensembl to Classify Gene Variants

Even though our knowledge about genomes grows daily, and in huge leaps, we sometimes need to remind ourselves that DNA was first isolated in 1869 and its molecular structure was only identified in 1953. The PCR reaction only hit the scientific community as recently as 1983! So even though we are growing fast, we are…

02 Jan 2018 Genomics and Epigenetics