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:

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 Jan 2018 Genomics & 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 & Epigenetics

How to Survive a Difficult PCR

I am sure many of you have been there. Everything is going smoothly, and your project seems to be working out perfectly. And then there is this one PCR. For some reason, it just won’t work. It is a black dot on your record. Even though I have a scientific mind, I have to be…

12 Oct 2017 PCR, qPCR and qRT-PCR

Next Gen Sequencing Challenges

Next generation sequencing opened the doors to our genome. It gives massive amounts of information in a week – whereas Sanger sequencing takes thrice as long, and causes lab lesions due to the abusive use of pipettes. Indeed, with minimal hands-on procedures we obtain a lot of data. But nothing in Science is ever easy.…

05 Sep 2017 Genomics & Epigenetics

Maxam-Gilbert Sequencing: What Was It, and Why It Isn’t Anymore

In the mid-1970s, two methods were developed for directly sequencing DNA: the Maxam-Gilbert sequencing (or chemical sequencing) method and the Sanger chain-termination method. Indeed, in 1980, both Walter Gilbert and Frederick Sanger were awarded The Nobel Prize in Chemistry for “their contributions concerning the determination of base sequences in nucleic acids”. Actually, each got a…

26 Jul 2017 Genomics & Epigenetics