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A Novel Strategy Combining Array-CGH, Whole-exome Sequencing and In Utero Electroporation in Rodents to Identify Causative Genes for Brain Malformations
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Corrigendum: Deepening the understanding of CNVs on chromosome 15q11-13 by using hiPSCs: An overview

Angela Maria Giada Giovenale1,2, Giorgia Ruotolo1,2, Amata Amy Soriano1

  • 1Cellular Reprogramming Unit, Fondazione IRCCS Casa Sollievo della Sofferenza, San GiovanniRotondo, Italy.

Frontiers in Cell and Developmental Biology
|February 23, 2023
PubMed

Keywords:
15q11-13CHRNA7CNVcopy number variationneurodevelopmental disordersneuropsychiatric disordersnicotinic acetylcholine receptor

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Sequencing of the human genome has opened up several best-kept secrets of the genome. Scientists have identified thousands of genome variations that exist within a population. These variations can be a single nucleotide or a larger chromosomal variation.
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A single nucleotide polymorphism or SNP is a single nucleotide variation at a specific genomic position in a large population. It is the most prevalent type of sequence variation found in the human genome. Point mutations that occur in more than 1% of the population qualify as SNPs. These are present once every 1000 nucleotides on an average in the human genome. Replacement of a purine with another purine (A/G) or a pyrimidine with another pyrimidine (C/T) is known as a transition. In contrast,...
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