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From NGS data analysis to drug discovery

Our Articles and Publications

Public platform with 39,472 exome control samples enables association studies without genotype sharing

Public Platform with 39,472 Exome Control Samples Enables Association Studies without Genotype Sharing

January 10, 2024

Genetic association analyses rely on quality and size of case and control samples. However, maintaining a shared genetic background poses challenges.

Geneyx Publications

Development of a human genetics-guided priority score for 19,365 genes and 399 drug indications

January 3, 2024

Studies reveal medicines backed by Mendelian loci and genome-wide association studies are two times as likely to acquire approval.

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases

Beyond the Exome: Utility of Long‑Read Whole Genome Sequencing in Exome‑Negative Autosomal Recessive Diseases

December 14, 2023

While extremely useful, the read length of srES, on the order of 100–300 bp per read, can result in the loss of resolution of genomic regions that are not

Geneyx Analysis: Monogenic diabetes clinic (MDC): 3-year experience

Monogenic diabetes clinic (MDC): 3-year experience

September 30, 2022

The most common cause of diabetes in children is polygenic autoimmune type 1 diabetes mellitus (T1DM); however, a significant proportion of patients in clinics have a single-gene pathogenic variation,

Geneyx Analysis - ZTTK Syndrome

The Expanding Phenotype of ZTTK Syndrome Due to the Heterozygous Variant of SON Gene Focusing on Liver Involvement: Patient Report and Literature Review

March 23, 2023

Zhu-Tokita-Takenouchi-Kim syndrome (ZTTK Syndrome) is an autosomal dominant genetic condition caused by heterozygous SON gene mutations that affect RNA splicing and cell cycle progression.

Biallelic Truncating Variants in Children with Titinopathy Represent a Recognizable Condition with Distinctive Muscular and Cardiac Characteristics: A Report on Five Patients

July 27, 2023

The authors carried out a retrospective study. The medical histories of pediatric patients with compound heterozygous TTN changes and cardiac disorders were examined.

Genome Sequencing: CLCN4 Gene

A Case Report: Developmental and Epileptic Encephalopathy in a Young Italian Woman with a De Novo Missense Variant in the CLCN4 gene

June 2, 2023

WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies.

Using Pharmacogenomics (PGx) in Real World Applications

Using Pharmacogenomics (PGx) in Real World Applications

July 16, 2023

PGx provides valuable insights into how individuals metabolize drugs, which can impact the effectiveness of medications and increase the risk of side effects.

Biallelic loss of function variants in WBP4, encoding a spliceosome protein, result in a variable neurodevelopmental delay syndrome

Biallelic Loss of Function Variants in WBP4, Encoding a Spliceosome Protein, Result In A Variable Neurodevelopmental Delay Syndrome

June 19, 2023

WBP4 (WW Domain Binding Protein 4) is part of the early spliceosomal complex, and was not described before in the context of human pathologies.

Geneyx Analysis Long-Read Sequencing Technology

The Advantages of Long-Read for Detection of Structural Variants

June 20, 2023

Long-read sequencing technology has enabled the detection and characterization of structural variations (SVs) at a higher resolution than ever before, including deletions, insertions, duplications, inversions, and translocations

Empowering Families through Carrier Screening: A Guide to Genetic Testing for Inherited Disease

Empowering Families through Carrier Screening: A Guide to Genetic Testing for Inherited Diseases

May 11, 2022

Carrier screening is typically done before or during pregnancy and is used to determine the likelihood that a couple will have a child with a genetic disorder. Carrier screening

All of Us (AoU) initiative aims to sequence the genomes of over one million Americans from diverse ethnic backgrounds to improve personalized medical care

Utility of Long-Read Sequencing For All of Us 

January 24, 2022

The All of Us (AoU), a National Institutes of Health project, is an immense endeavor to sequence as many as 1 million individuals in order to create a broad

A Complex Genomic Rearrangement Resulting in Loss of Function of SCN1A and SCN2A in a Patient with Severe Developmental and Epileptic Encephalopathy

October 26, 2022

For variant annotation, Geneyx Analysis was used, which combines an exhaustive gene-phenotype interpretation tool with thorough filtering competence within a consolidated user interface that supports browsing, viewing, and interpretation,

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.

Cancers

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

דר רויטל קריב

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

Hagar Mor

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

Babies Photos

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

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