3 Result(s)
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Pantazis I. Theotokis
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Article
Open AccessGenetic constraint at single amino acid resolution in protein domains improves missense variant prioritisation and gene discovery
One of the major hurdles in clinical genetics is interpreting the clinical consequences associated with germline missense variants in humans. Recent significant advances have leveraged natural variation observ...
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Article
Open AccessThe Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort
The integration of comprehensive genomic and phenotypic data from diverse ethnic populations offers unprecedented opportunities toward advancements in precision medicine and novel diagnostic technologies. Curr...
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Protocol
RACE-SEQ and Population-Wide Polymorphism Susceptibility Testing for Endonucleolytically Active, RNA-Targeting Therapeutics
High-throughput sequencing of the products of 5′ RNA ligase-mediated rapid amplification of cDNA ends (5′ RLM-RACE) reactions (RACE-SEQ) enables the map** and digital enumeration of expected and novel 5′ end...
