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A Curated Selection of Relevant Reads From Around The Web

CFTR function is impaired in a subset of patients with pancreatitis carrying rare CFTR variants

Accurate Proteome-Wide Missense Variant Effect Prediction with AlphaMissense 

September 22, 2023

Using a novel method called AlphaMissense, pathogenicity of missense variants may be successfully predicted by using unsupervised protein language modeling, structural context from AlphaFold system, and adjustments on weak

Geneyx Analysis - Oncology

Structural Variant Detection In Cancer Genomes Computational Challenges And Perspectives For Precision Oncology 

March 2, 2021

The gnomAD v2 browser announced the addition of cumulative counts of gnomAD individuals carrying pairs of rare co-occurring variants within genes , which can be used to assess how

The gnomAD v2 browser announced the addition of cumulative counts of gnomAD individuals

Variant Co-occurrence Counts by Gene in gnomAD

March 14, 2023

The gnomAD v2 browser announced the addition of cumulative counts of gnomAD individuals carrying pairs of rare co-occurring variants within genes , which can be used to assess how

Decoding the Complexities of COVID-19 with Multiomics Analysis 

January 31, 2023

A fundamental question we have heard in several conversations, is how to integrate data from >1 omic level analyzed. Nature publication journal created an article called “Integrated multiomics analysis


New report calls for personalised testing for safety and effectiveness of common medicines throughout the NHS

March 22, 2022

A new report published today by the British Pharmacological Society and the Royal College of Physicians states that testing patients for genetic variations that affect how their body will

Genome Testing

Whole-genome sequencing could save NHS millions of pounds, study suggests

November 10, 2021

The use of whole-genome sequencing could save the NHS millions of pounds, a study suggests, after it found a quarter of people with rare illnesses received a diagnosis for

Sick Newborn

Effect of Whole-Genome Sequencing on the Clinical Management of Acutely Ill Infants With Suspected Genetic Disease

September 27, 2021

Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires evidence of an effect on clinical management.

Biomarkers in Drug Development

Advances in Genomics for Drug Development

August 15, 2020

Various conceptual approaches and techniques assist target identification, target prioritization and tractability, as well as the prediction of outcomes from pharmacological perturbations. These basic premises are now supported by

DNA Image

Long Reads Can Make Short Work of Rare Disease Diagnostics

August 25, 2021

Why might longer reads improve genetic disease diagnosis? The answer lies, in part, in the types of mutations that cause disease. Some genetic diseases are caused by single nucleotide

Data Diagrams

Are drug targets with genetic support twice as likely to be approved? Revised estimates of the impact of genetic support for drug mechanisms on the probability of drug approval

December 12, 2019

Our work confirms drugs with genetically supported targets were more likely to be successful in Phases II and III. When causal genes are clear (Mendelian traits and GWAS associations

Work Process

Top U.S. Medical Centers Roll Out DNA Sequencing Clinics for Healthy Clients

August 18, 2019

Genomic sequencing programs that cater to apparently healthy adults have been started in the past few years at the Mayo Clinic; the University of California, San Francisco; and the

Scientist Analyzing

Genomics-driven drug discovery based on disease-susceptibility genes

March 10, 2021

Genome-wide association studies have identified numerous disease-susceptibility genes. As knowledge of gene–disease associations accumulates, it is becoming increasingly important to translate this knowledge into clinical practice. This challenge involves

The Advantages of Long-Read Sequencing

DNA sequencing technologies have contributed to drugdiscovery and development pipelines for decades, butmore recent innovations offer to significantly expand theapplications for which sequencing is an appropriate choice. While next-generation


Rapid Genetic Testing May Have Spared This Baby From Death

June 15, 2021

For an infant with seizures, every passing hour risks more harm to the newborn's brain. That's why this story from Rady Children's Hospital in San Diego is so inspiring, not

Sequence of a Human Genome

The complete sequence of a human genome

May 26, 2021

In 2001, Celera Genomics and the International Human Genome Sequencing Consortium published their initial drafts of the human genome, which revolutionized the field of genomics. While these drafts and

Personal Genome Analysis

Gene therapy coming
of age: Opportunities
and challenges to
getting ahead

October 1, 2019

The completion of the first draft of the human genome in 2001 was supposed to kick off an era of personalized medicine and curative gene therapies.1 Only in the

Lab Work Process

Genetic testing: Opportunities to unlock value in precision medicine

October 31, 2018

With a growing repository of personalized data at the molecular level, molecular-diagnostics companies are uniquely positioned to unlock value. The global market for personalized medicine has grown rapidly since

Children's Mercy

Kansas City Lights the Night with a New Research Institute

April 30, 2021

Genomic sequencing is giving families hope in the face of uncertainty at Children’s Mercy Hospital in Kansas City Like many teenagers his age, when Ben noticed that something was a

Diseases in the Cells

Reading genes for better therapies

November 19, 2018

BAYER RESEARCHERS ARE APPLYING DISEASE GENOMICS TO GET TO THE BOTTOM OF DISEASES Bayer researchers scrutinize the anonymized DNA of thousands of patients to find genetic differences so that

Scientist Viewing Dna Information On Screen

DNA-Based Data Is a Hot Commodity, and Pharma Is Buying

March 18, 2020

As the pharmaceutical industry continues along the path to precision medicine, drug discovery efforts are just one aspect of the business that increasingly will be fueled by data. A

Increased Adoption of Whole-Genome Sequencing Testing Hinges on Acceptance by Payors, Providers

November 20, 2020

NEW YORK — As whole-genome sequencing becomes a more common testing option, a panel of genetic counselors and others participating in the virtual annual meeting

Gene Data Collaboration Platform

Next-generation sequencing in drug development: target identification and genetically stratified clinical trials

December 27, 2020

Next-generation sequencing (NGS) enabled high-throughput analysis of genotype–phenotype relationships on human populations, ushering in a new era of genetics-informed drug development. The year 2017 was remarkable, with the first

PacBio and Geneyx collaboration

Leading the Way into the Future: HiFi Whole Genomes as a Replacement for Exome and Short-Read Genome Sequencing

March 28, 2024

Institutions like Children’s Mercy Kansas City and Bioscientia are pioneering the use of HiFi sequencing to replace traditional exome and short-read genome approaches, accelerating diagnostic processes and improving the


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Geneyx Analysis Version 5.12 Release


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