Publications by authors named "Mariel Wissmann"
Article Synopsis
- Researchers sequenced the genomes of 822 families with suspected rare monogenic diseases that were previously undiagnosed through standard genetic tests, including exome sequencing.
- They found that genome sequencing provided a molecular diagnosis for 29.3% of the initial families, with 8.2% requiring genome sequencing to identify variants that exome sequencing missed.
- The study showed that both research and clinical approaches could benefit from genome sequencing, demonstrating its importance in uncovering previously undetected genetic variations.
