Mar González-Porta
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View article: Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping
Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping Open
Pharmacogenomics (PGx) testing improves medication safety and efficacy by identifying genetic variants that affect drug response. However, current technologies often fail to resolve complex loci, detect structural variants, or phase allele…
View article: A combined risk model shows viability for personalized breast cancer risk assessment in the Indonesian population: A case/control study
A combined risk model shows viability for personalized breast cancer risk assessment in the Indonesian population: A case/control study Open
Breast cancer remains a significant concern worldwide, with a rising incidence in Indonesia. This study aims to evaluate the applicability of risk-based screening approaches in the Indonesian demographic through a case-control study involv…
View article: Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping
Targeted adaptive sampling enables clinical pharmacogenomics testing and genome-wide genotyping Open
Pharmacogenomics (PGx) testing improves medication safety and efficacy by identifying genetic variants that affect drug response. However, current technologies often fail to resolve complex loci, detect structural variants, or phase allele…
View article: Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip
Development and validation of a pharmacogenomics reporting workflow based on the illumina global screening array chip Open
Background: Microarrays are a well-established and widely adopted technology capable of interrogating hundreds of thousands of loci across the human genome. Combined with imputation to cover common variants not included in the chip design,…
View article: A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes
A Catalogue of Structural Variation across Ancestrally Diverse Asian Genomes Open
Structural variants (SVs) are significant contributors to inter-individual genetic variation associated with traits and diseases. Current SV studies using whole-genome sequencing (WGS) have a largely Eurocentric composition, with little kn…
View article: A combined risk model shows viability for personalized breast cancer risk assessment in the Indonesian population
A combined risk model shows viability for personalized breast cancer risk assessment in the Indonesian population Open
Breast cancer remains a significant concern worldwide, with a rising incidence in Indonesia. This study aims to evaluate the applicability of risk-based screening approaches in the Indonesian demographic through a case-control study involv…
View article: Analysis of clinically relevant variants from ancestrally diverse Asian genomes
Analysis of clinically relevant variants from ancestrally diverse Asian genomes Open
View article: Blood transcriptome profile induced by an efficacious vaccine formulated with salivary antigens from cattle ticks
Blood transcriptome profile induced by an efficacious vaccine formulated with salivary antigens from cattle ticks Open
View article: Best practices for benchmarking germline small-variant calls in human genomes
Best practices for benchmarking germline small-variant calls in human genomes Open
View article: Aberration hubs in protein interaction networks highlight actionable targets in cancer
Aberration hubs in protein interaction networks highlight actionable targets in cancer Open
Despite efforts for extensive molecular characterization of cancer patients, such as the international cancer genome consortium (ICGC) and the cancer genome atlas (TCGA), the heterogeneous nature of cancer and our limited knowledge of the …
View article: Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes
Best Practices for Benchmarking Germline Small Variant Calls in Human Genomes Open
Assessing accuracy of NGS variant calling is immensely facilitated by a robust benchmarking strategy and tools to carry it out in a standard way. Benchmarking variant calls requires careful attention to definitions of performance metrics, …
View article: Impact of Alternative Splicing on the Human Proteome
Impact of Alternative Splicing on the Human Proteome Open
Alternative splicing is a critical determinant of genome complexity and, by implication, is assumed to engender proteomic diversity. This notion has not been experimentally tested in a targeted, quantitative manner. Here, we have developed…
View article: Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5′ splice site strength
Regulation of constitutive and alternative mRNA splicing across the human transcriptome by PRPF8 is determined by 5′ splice site strength Open
View article: The RNA-binding protein HuR is essential for the B cell antibody response
The RNA-binding protein HuR is essential for the B cell antibody response Open