Top Tweets for #variantPrioritisation

almost 4 years ago

📢📄Out now @TrendsGenetics our review on #phenotype-aware #variantPrioritisation in #RareDisease👇https://t.co/zZjlTPJwNG 👎Most tools are out-of-date/no local access 👍The few left work a great deal: let's use them to assist diagnostics! Kudos to *Catherine Kelly*, now @healx

Val3Cipriani's tweet photo. 📢📄Out now @TrendsGenetics our review on #phenotype-aware #variantPrioritisation in #RareDisease👇https://t.co/zZjlTPJwNG

👎Most tools are out-of-date/no local access
👍The few left work a great deal: let's use them to assist diagnostics!

Kudos to *Catherine Kelly*, now @healx https://t.co/PI3GBrXdl4

Valentina Cipriani @Val3Cipriani

almost 4 years ago

Look at us, indeed! What a team! 🙌 📢Some recent efforts: * #Phenopacket schema https://t.co/OkcoqkGhK6 * #Phenotype-driven approaches for #RareDisease #variantPrioritisation https://t.co/b7KnAHNuch * Gene discovery via mouse embryo viability screening https://t.co/dDbAarpgcl

Pilar Cacheiro @pilarcacheiro

almost 4 years ago

Look at us. Computational phenogenomics group to the rescue! May you find yourself a great team. From left to right, Jules Jacobsen, @Val3Cipriani, @SmedleyDamian, myself and @letizia_ve

pilarcacheiro's tweet photo. Look at us. Computational phenogenomics group to the rescue! May you find yourself a great team. From left to right, Jules Jacobsen, @Val3Cipriani, @SmedleyDamian, myself and @letizia_ve https://t.co/yEbAyT31nc

Javier Santoyo @jsantoyo

over 4 years ago

Annotating and prioritising genomic variants using the Ensembl Variant Effect Predictor ‐ a tutorial. #GenomicVariants #VariantAnnotation #VariantPrioritisation #VEP #Tutorial https://t.co/SQyt65OMjB #HumanMutation

Top Tweets for #variantPrioritisation

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