基本信息
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Career Trajectory
Bio
I have integrated the Next Gen Sequencing Unit at BIOCANT since 2008 (www.genoinseq.com) and I have been involved in genotyping, sequencing and bioinformatics. I have collaborated in several projects in human genetics focused on the identification of biomarkers associated with specific phenotypes. I am experienced in the identification of human genetic biomarkers in Mendelian and complex diseases. I have accumulated expertise in in silico and in vitro characterization of genetic variants to clarify their impact on both gene expression and protein function. I am highly experienced in NGS sample preparation, sequencing and data analysis, in particular gene panels and exome sequencing (Ion Proton, Life Technologies and MiSeq, Illumina). I am also highly practiced in SNP genotyping and data analysis through high-throughput platforms.
Over the years, I have been focused on gene association studies in type II diabetes microvascular complications, namely diabetic retinopathy, and in congenital glaucoma.
I have authored and co-authored 1 patent and 7 publications in peer review journals. I have participated in 9 National and European projects with research teams and private companies.
Research Interests
Papers共 22 篇Author StatisticsCo-AuthorSimilar Experts
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Maria Jose Simoes,Pedro M. Almeida,Hugo Froufe, Silvia Magalhaes,Daniel Martins,Sofia Pinto,Catarina Correia,Janet Pereira, Alexandra Oliveira,Sergio B. Sousa,Conceicao Egas
MEDICINEno. 9 (2020)
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Joana Rosmaninho Salgado,Janet Pereira,Meriel McEntagart,Sahar Mansour, Piers Daubney,Rachel Power,Christine Hall,Belinda Campos-Xavier,Conceicao Egas,Hugo Froufe,Maria Jose Simoes, Catarina Gomes,
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Author Statistics
#Papers: 22
#Citation: 201
H-Index: 7
G-Index: 14
Sociability: 5
Diversity: 0
Activity: 0
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