derfinder

Regulatory sites for known and novel splicing in human basal ganglia are enriched for disease-relevant information

Genome-wide association studies have generated an increasing number of common genetic variants that affect neurological and psychiatric disease risk. Given that many causal variants are likely to operate by regulating gene expression, an improved …

Incomplete annotation of OMIM genes is likely to be limiting the diagnostic yield of genetic testing, particularly for neurogenetic disorders

Although the increasing use of whole-exome and whole-genome sequencing have improved the yield of genetic testing for Mendelian disorders, an estimated 50% of patients still leave the clinic without a genetic diagnosis. This can be attributed in part …

From learning to using to teaching to developing R

Keynote to kickoff the CDSB Mexico 2018 R/Bioconductor workshop

Developmental and genetic regulation of the human cortex transcriptome illuminate schizophrenia pathogenesis

Genome-wide association studies have identified 108 schizophrenia risk loci, but biological mechanisms for individual loci are largely unknown. Using developmental, genetic and illness-based RNA sequencing expression analysis in human brain, we …

Reproducible RNA-seq analysis with recount2

recount2 overview for the ICSA 2017 conference

RNA-seq samples beyond the known transcriptome with derfinder available via recount2

Showcasing how derfinder and recount2 can be used together to perform annotation-agnostic RNA-seq analyses at SOBP2017

Introduction at Kandahar University MPH training event

Introduction of my work to kick off the epidemiology and biostatistics training for Kandahar University MPH faculty.

recount: facilitando el análisis de miles de muestras de RNA-seq

Desde que es derfinder hasta como se puede usar con recount2

Using Data Science to Study Human Brain Genomic Measurements

Motivating SACNAS2016 attendees to pursue a career in STEM by showcasing my research

Flexible expressed region analysis for RNA-seq with derfinder

derfinder analysis using expressed region-level and single base-level approaches provides a compromise between full transcript reconstruction and feature-level analysis. The package is available from Bioconductor.