Publications

Pharmacogenomics of 17-alpha hydroxyprogesterone caproate for recurrent preterm birth: a case–control study

BJOG 2017; DOI: 10.1111/1471-0528.14485.
Pubmed Abstract

Read how Fabric Genomics’ (formerly Omicia) VAAST algorithm was used to determine genetic differences in women with recurrent preterm birth despite 17-P treatment.

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Publications

Targeted next generation sequencing of a panel of autism-related genes identifies an EHMT1 mutation in a Kleefstra syndrome patient with autism and normal intellectual performance

István Bocka, Krisztina Némethb, Klára Pentelényic, Péter Baliczac, Anna Balázsb, Mária Judit Molnárc, Viktor Románd, József Nagye, György Lévayf, Julianna Koboláka, András Dinnyésa

Fabric Genomics' (formerly Omicia) Opal clinical genetic interpretation software was used to identify an EHMT1 mutation in autism. "Phenotypic effects of the final candidate variants were evaluated using the ACMG guidelines & Omicia Opal." Opal has integrated the most up-to-date ACMG classification guidelines in the software.

Gene, Volume 595, Issue 2, 31 December 2016, Pages 131–141
Pubmed Abstract
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