@KingOfGenomes

Human being. Pescatarian. Currently living on Earth. All tweets are my own except the ones that are not.

Joined March 2019
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Re-analysis of ~100 rare disease and sudden death cases with @KingOfGenomes (nice handle) and @GenooxTeam uncovers missed pathogenic variants: genomemedicine.biomedcentral… Re-analyze those old exomes! A small increase in yield is highly impactful for those with an updated report.

Re-analysis of whole-exome sequencing data uncovers novel diagnostic variants and improves molecu...

Genome Medicine - Whole-exome sequencing (WES) has become an efficient diagnostic test for patients with likely monogenic conditions such as rare idiopathic diseases or sudden unexplained death....

link.springer.com
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