Reposted by Rachel
After a good 6 years (phew!), our work on pangenomic applications to detect genetic variants from targeted sequencing data is finally out in Genome Medicine ▶️ link.springer.com/article/10.1... 🧬🖥️ 👩🔬
link.springer.com
Pangenomes aid accurate detection of large insertions and deletions from targeted sequencing: the case of cardiomyopathies - Genome Medicine
Background Gene panels represent a widely used strategy for genetic testing in a vast range of Mendelian disorders. While this approach aids reliable bioinformatic detection of short coding variants, ...
