Phenotype‐driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare …
NM Marinakis, M Svingou, D Veltra… - American Journal of …, 2021 - Wiley Online Library
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …
described and almost 4500 causative gene (s) have been identified. The advent of next …
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare …
NM Marinakis, M Svingou, D Veltra… - American Journal of …, 2021 - europepmc.org
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …
described and almost 4500 causative gene (s) have been identified. The advent of next …
Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare …
NM Marinakis, M Svingou, D Veltra… - … journal of medical …, 2021 - pubmed.ncbi.nlm.nih.gov
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …
described and almost 4500 causative gene (s) have been identified. The advent of next …
[PDF][PDF] Phenotype-driven variant filtration strategy in exome sequencing toward a high diagnostic yield and identification of 85 novel variants in 400 patients with rare …
NM Marinakis, M Svingou, D Veltra, K Kekou… - researchgate.net
About 6000 to 7000 different rare disorders with suspected genetic etiologies have been
described and almost 4500 causative gene (s) have been identified. The advent of next …
described and almost 4500 causative gene (s) have been identified. The advent of next …