Cecilia Salvoro- PhD
- PostDoc Position at Barcelona Supercomputing Center
Cecilia Salvoro
- PhD
- PostDoc Position at Barcelona Supercomputing Center
About
15
Publications
2,440
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262
Citations
Introduction
I'm a Molecular Biologist and Geneticist with a passion for the Human Genome. I'm currently working as a Bioinformatician in the field of Computational Genomics. My research is focused on the genetics and genomics of complex traits, especially the role of the X chromosome in gender bias in disease prevalence.
Current institution
Additional affiliations
March 2017 - May 2017
Position
- Laboratory Assistant
Description
- Laboratory assistant for the practical lessons of the course of Applied Molecular Genetics
February 2016 - present
Position
- PhD Student
Description
- I work in the field of Human Genetics/Genomics, particularly with next-generation sequencing data, for the identification of disease alleles (Schizophrenia, Bipolar Disorder, PTC, PCD) and the development of a predictive tool for eye colour from SNP data.
January 2014 - present
Position
- Laboratory Assistant
Description
- Laboratory assistant for the practical lessons of the course of Forensic Genetics
Education
January 2013 - December 2015
October 2006 - October 2011
October 2006 - July 2009
Publications
Publications (15)
The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). Here, we contribute to fill this gap by generating a dense haplotype map foc...
The identification and characterisation of genomic changes (variants) that can lead to human diseases is one of the central aims of biomedical research. The generation of catalogues of genetic variants that have an impact on specific diseases is the basis of Personalised Medicine, where diagnoses and treatment protocols are selected according to ea...
With the recent advances in next-generation sequencing (NGS), mitochondrial whole-genome sequencing has begun to be applied to the field of the forensic biology as an alternative to the traditional Sanger-type sequencing (STS). However, experimental workflows, commercial solutions, and output data analysis must be strictly validated before being im...
The combined analysis of haplotype panels with phenotype clinical cohorts is a common approach to explore the genetic architecture of human diseases. However, genetic studies are mainly based on single nucleotide variants (SNVs) and small insertions and deletions (indels). Here, we contribute to fill this gap by generating a dense haplotype map foc...
Genome-wide association studies (GWAS) are not fully comprehensive, as current strategies typically test only the additive model, exclude the X chromosome, and use only one reference panel for genotype imputation. We implement an extensive GWAS strategy, GUIDANCE, which improves genotype imputation by using multiple reference panels and includes th...
Genome-wide association studies (GWAS) are not fully comprehensive as current strategies typically test only the additive model, exclude the X chromosome, and use only one reference panel for genotype imputation. We implemented an extensive GWAS strategy, GUIDANCE, which improves genotype imputation by using multiple reference panels, includes the...
Forensic DNA phenotyping (FDP) has recently provided important advancements in forensic investigations, by predicting the physical appearance of a subject from a biological sample, using SNP markers. The majority of operable prediction models have been developed for iris color; however, replication studies to understand their applicability on a wor...
Introduction
The slow-channel congenital myasthenic syndrome (SCCMS) is a postsynaptic form of congenital myasthenic syndromes (CMSs), a clinically heterogeneous group of disorders caused by genetic defects leading to an abnormal signal transmission at the endplate.
Methods
We report clinical and molecular data of a multigenerational family in whi...
Schizophrenia (SCZ) and bipolar disorder (BPD) are highly heritable disorders with an estimated co-heritability of 68%. Hundreds of common alleles have been implicated, but recently a role for rare, high-penetrant variants has been also suggested in both disorders. This study investigated a familial cohort of SCZ and BPD patients from a closed popu...
PER3 gene polymorphisms have been associated with differences in human sleep-wake phenotypes, and sensitivity to light. The aims of this study were to assess: i) the frequency of allelic variants at two PER3 polymorphic sites (rs57875989 length polymorphism: PER3⁴, PER3⁵; rs228697 SNP: PER3C, PER3G) in relation to sleep-wake timing; ii) the effect...
Primary ciliary dyskinesia (PCD) is a rare genetic disorder that alters mucociliary clearance, with consequent chronic disease of upper and lower airways. Diagnosis of PCD is challenging, and genetic testing is hampered by the high heterogeneity of the disease, because autosomal recessive causative mutations were found in 34 different genes. In thi...
Primary Ciliary Dyskinesia (PCD) is a rare genetic disorder that causes deficiency in mucociliary clearance, with consequent chronic disease of upper and lower airways. Currently, the diagnosis of PCD relies on cilium morphology, motility and ultrastructure, nasal nitric oxide measurement and genetic analysis. The latter is hampered by the high het...
The genetic architecture of Schizophrenia and Bipolar Disorder: An intriguing puzzle of loci and their complex interaction in a closed population.
