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From NGS data analysis to drug discovery
Our Articles and Publications
Application of Prenatal Whole Exome Sequencing for Structural Congenital Anomalies—Experience from a Local Prenatal Diagnostic Laboratory
December 2, 2022
Geneyx Analysis enabled biomedical professionals to leverage comprehensive biomedical knowledgebases to identify 18 pathogenic variants and 10 likely pathogenic variants across 20 different genes.
The Genomic Landscape in Philadelphia-Negative Myeloproliferative Neoplasm Patients with Second Cancers
June 14, 2022
Philadelphia-chromosome-negative myeloproliferative neoplasms (MPNs) are a group of clonal hematopoietic stem cell disorders characterized by the excessive production of differentiated myeloid cells. characterize the genomic landscapes in 26 paired
Whole Genome Sequencing Applied in Familial Hamartomatous Polyposis Identifies Novel Structural Variations
July 2, 2022
Whole-genome sequencing (WGS) that identified structural genetic alterations: two novel inversions in BMPRA1 and STK11, two BMPR1A-deletions, known as founders among Bukharan Jews, and BMPR1A microdeletion. BMPR1A inversion was
Levodopa-responsive dystonia caused by biallelic PRKN exon inversion invisible to exome sequencing
September 6, 2021
Genomic DNA was extracted from peripheral blood and NGS libraries were prepared with an Illumina PCR-free TruSeq DNA Library Prep Kit. Sequences were generated on an Illumina NovaSeq 6000
Bi-allelic PAGR1 variants are associated with microcephaly and a severe neurodevelopmental disorder: Genetic evidence from two families
August 26, 2021
Exome and genome sequencing was used to identify the genetic etiology of a severe neurodevelopmental disorder in two unrelated Ashkenazi Jewish families with three affected individuals. The clinical findings
Posterior Lissencephaly Associated with Subcortical Band Heterotopia Due to a Variation in the CEP85L Gene: A Case Report and Refining of the Phenotypic Spectrum
August 5, 2021
Lissencephaly describes a group of conditions characterized by the absence of normal cerebral convolutions and abnormalities of cortical development. To date, at least 20 genes have been identified as
A New Intronic Variant in ECEL1 in Two Patients with Distal Arthrogryposis Type 5D
February 20, 2021
Arthrogryposis multiplex congenital (AMC) relates to congenital joint contractures or motion limitations affecting numerous regions of the body. Alesi, analyzed 2 distal arthrogryposis type 5D patients by exome
Exome sequencing as the first-tier test for pediatric respiratory diseases: a single-center study
May 3, 2021
Many patients with monogenic respiratory disorders could be missed without genetic testing. Geneyx Analysis was used to interpret
