science1 publisher
Two new Max Planck tools target the 60% to 70% of sequenced patients left undiagnosed
Martin Vingron's lab has published two algorithms for the variant classes that short-read pipelines handle worst. The validation detail in both reports is thin, so diagnostic labs will have to test them.
Publishers:phys.org
Reality
- Evidence42
- Adoption10
- Hype gap+28
- Incentives62
- Confidence55