Simon Sadedin

Accurate repeat expansion genotyping from whole-genome and real-time targeted nanopore sequencing with Mahi-mahi

Mahi-mahi accurately genotypes repeat expansions from nanopore sequencing data, matching orthogonal methods and identifying pathogenic alleles.

Scalable automated reanalysis of genomic data in research and clinical rare disease cohorts

The paper develops an automated tool for reanalyzing genomic data in rare disease cohorts, showing improved diagnostic yields through iterative reanalysis.

Bazam: A rapid method for read extraction and realignment of high throughput sequencing data

Bazam extracts and realigns high throughput sequencing data efficiently, reducing realignment time by up to 90% compared to standard methods.

Ximmer: A System for Improving Accuracy and Consistency of CNV Calling from Exome Data

Ximmer improves CNV calling accuracy and consistency from exome data through systematic quality control, parameter adjustment, and confidence calibration.

STRetch: detecting and discovering pathogenic short tandem repeats expansions

STRetch detects pathogenic short tandem repeat expansions in whole genome sequencing data, revealing novel disease-causing STRs with low false discovery rate.

Cpipe: a shared variant detection pipeline designed for diagnostic settings

Cpipe is a variant detection pipeline designed for clinical genomics, offering fast, reproducible, and customizable analysis for diagnostic settings.