Trinity RNA-Seq de novo transcriptome assembly

The Ensembl Variant Effect Predictor predicts the functional effects of genomic variants

A collection of sequencing protocols and bioinformatic resources for SARS-CoV-2 sequencing.

Scripts to estimate genome size and coverage from kmer distribution generated by jellyfish

Framework to process and call somatic variation from NGS dataset generated using MSK-IMPACT assay

SCIP: software for efficient clinical interpretation of CNVs detected by WGS

NIPT script for detecting chr13/18/21 aneuploid from Ion torrent NGS data

CfDNA end selection for cancer diagnosis

compilation of script for the use of CANOES