Her prestigious lab working on Integrative and Experimental genomics to understand the underlying mechanism thats able to define an inherited predisposition of coronary artery disease (CAD) and myocardial infarction (MI) via GWAS, different...
The laboratory is focused on the discovery and analysis of structural variation (SVs) from genomic sequence data. As part of the 1000 Genomes Project and other endeavors, we have helped produce initial fine-scale maps using a variety of SV discovery...
github.com - methylKit is an R package for DNA methylation analysis and annotation from high-throughput bisulfite sequencing. The package is designed to deal with sequencing data from RRBS and its variants, but also target-capture methods such as Agilent...
chagall.med.cornell.edu - RNAseq can be roughly divided into two "types":
Reference genome-based - an assembled genome exists for a species for which an RNAseq experiment is performed. It allows reads to be aligned against the reference genome and significantly improves...
pachterlab.github.io - With kallisto | bustools you can
Generate a cell x gene or cell x transcript equivalence class count matrix
Perform RNA velocity and single-nuclei RNA-seq analsis
Quantify data from numerous technologies such as...
pachterlab.github.io - kallisto is a program for quantifying abundances of transcripts from bulk and single-cell RNA-Seq data, or more generally of target sequences using high-throughput sequencing reads. It is based on the novel idea of pseudoalignment for...
Uncovering Mechanisms of Hepatotoxicity for High Affinity Antisense Oligonucleotides – 3’ end RNA-seq Profiling Using GeneSpring GX
High affinity antisense oligonucleotides (ASOs) containing bicylic modifications (BNA) such as locked...
www.today.com - “What we really don’t know yet is whether the predictive aspects of the genome are going to turn out to be beneficial or potentially harmful”
“As we roll out genomic medicine we are fighting against this society-wide...