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Omicia Inc opal platform
Opal Platform, supplied by Omicia Inc, used in various techniques. Bioz Stars score: 90/100, based on 1 PubMed citations. ZERO BIAS - scores, article reviews, protocol conditions and more
https://www.bioz.com/product/opal+platform/opal+platform/pmc09896472-209-7-6
Average 90 stars, based on 1 article reviews
opal platform - by Bioz Stars, 2026-10
90/100 stars

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Article Title: A rare mutation of β 1 -adrenergic receptor affects sleep/wake behaviors
Article Snippet: Omicia Opal 0.10.0 software was used to annotate the potentially causative genes/variants in the exomes of each of the affected individuals (after filtering out common variants, dbSNP MAF > 1%) using the HGMD and OMIM databases.

Article Title: Bi-allelic Variants in the GPI Transamidase Subunit PIGK Cause a Neurodevelopmental Syndrome with Hypotonia, Cerebellar Atrophy, and Epilepsy
Article Snippet: Clinical genome interpretation was performed using Omicia’s Opal platform.

Article Title: Biallelic mutations in valyl-tRNA synthetase gene VARS are associated with a progressive neurodevelopmental epileptic encephalopathy
Article Snippet: Opal system uses a variety of effect prediction programs in aggregate to establish an Omicia Score (e.g. SIFT, PolyPhen, VEP, SNAP2, MutationTaster) for interpretation of their results, 0-1, closer to 1 as most damaging.

Article Title: Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria
Article Snippet: Clinical genome interpretation was performed using Omicia’s Opal platform ( ).


Article Title: TIMELESS mutation alters phase responsiveness and causes advanced sleep phase.
Article Snippet: Omicia Opal 0.10.0 software was used to annotate the variants for potential disease-causing mutations in the exomes of each of the affected individuals (after filtering out common variants, dbSNP minor allele frequency > 1%) using the HGMD and OMIM databases.

Article Title: Mutations in Metabotropic Glutamate Receptor 1 Contribute to Natural Short Sleep Trait.
Article Snippet: Omicia Opal 0.10.0 software was used to annotate the potentially causative genes/variants in the exomes of each of the affected individuals (after filtering out common variants, dbSNP MAF > 1%) using the HGMD and OMIM databases.

Article Title: Germline homozygous missense DEPDC5 variants cause severe refractory early-onset epilepsy, macrocephaly and bilateral polymicrogyria.
Article Snippet: Clinical genome interpretation was performed using Omicia’s Opal platform (43).



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