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beatrizmclm/README.md

I work on gene expression data, and on whether you can trust what it tells you.

PhD Bioinformatics, University of West London (2026). I run the MSc Bioinformatics programme there and teach the computational modules.

What is here. Analysis work in R and Python: RNA-seq differential expression, variant calling, eQTL, ChIP-seq, DNA methylation, and some machine learning outside genomics. The numbered repositories are MSc coursework and are archived, so they are read-only.

What I am working on. Writing up two results about evaluation on small gene expression datasets. One is how much feature-selection leakage inflates cross-validated performance when marker genes are chosen on the whole dataset instead of inside each fold. The other is that on an imbalanced cohort, a model can reach 90% accuracy at a Cohen's kappa of exactly zero, which is to say it has learned nothing. Both came out of re-examining my own thesis pipeline.

Python · R · C++ · Bash · Git · Linux · Docker · Snakemake · Bioconductor · scikit-learn

beatrizmclm.github.io · LinkedIn · manso.beatriz@gmail.com

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  1. beatrizmclm.github.io beatrizmclm.github.io Public

    Bioinformatics Portfolio

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  2. 3.Variant_Call_Analysis 3.Variant_Call_Analysis Public

    Identifying single nucleotide polymorphisms (SNPs) and small insertions and deletion (indels) from next generation sequencing data

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  3. 4.RNA-Seq_Expression_Analysis 4.RNA-Seq_Expression_Analysis Public

    Breaking down the steps of a typical RNA-seq analysis

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  4. 8.eQTL_Analysis 8.eQTL_Analysis Public

    Identify allelic variants associated with gene expression on the basis that a proportion of transcripts are under genetic control.

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  5. 9.ChIP-seq_Analysis 9.ChIP-seq_Analysis Public

    ChIP-seq combines chromatin immunoprecipitation (ChIP) with massively parallel DNA sequencing to identify the binding sites of DNA-associated proteins.

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  6. Machine_Learning_Brazil_Covid_Dataset Machine_Learning_Brazil_Covid_Dataset Public

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