Better Data for Better Health

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A Curated Selection of Relevant Reads From Around The Web

January 28, 2025

The implementation of genome sequencing in rare genetic diseases diagnosis: a pilot study from the Hong Kong genome project

This research is the initial in Asia to document preliminary outcomes from a community-wide GS program for RDs, demonstrating the...

January 1, 2025

Cell-autonomous adaptation an overlooked avenue of adaptation in human evolution

To identify novel CAAs, authors propose integrating genome-wide scans with targeted analysis based on cellular fitness, evolutionary preservation, and gene...

March 28, 2024

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

Institutions like Children’s Mercy Kansas City and Bioscientia are pioneering the use of HiFi sequencing to replace traditional exome and...

September 22, 2023

Accurate Proteome-Wide Missense Variant Effect Prediction with AlphaMissense

Using a novel method called AlphaMissense, pathogenicity of missense variants may be successfully predicted by using unsupervised protein language modeling,...

March 2, 2021

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

The gnomAD v2 browser announced the addition of cumulative counts of gnomAD individuals carrying pairs of rare co-occurring variants within...

March 14, 2023

Variant Co-occurrence Counts by Gene in gnomAD

The gnomAD v2 browser announced the addition of cumulative counts of gnomAD individuals carrying pairs of rare co-occurring variants within...

January 31, 2023

Decoding the Complexities of COVID-19 with Multiomics Analysis

A fundamental question we have heard in several conversations, is how to integrate data from >1 omic level analyzed. Nature...

March 22, 2022

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

A new report published today by the British Pharmacological Society and the Royal College of Physicians states that testing patients...

November 10, 2021

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

The use of whole-genome sequencing could save the NHS millions of pounds, a study suggests, after it found a quarter...

September 27, 2021

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

Whole-genome sequencing (WGS) shows promise as a first-line genetic test for acutely ill infants, but widespread adoption and implementation requires...

August 15, 2020

Advances in Genomics for Drug Development

Various conceptual approaches and techniques assist target identification, target prioritization and tractability, as well as the prediction of outcomes from...

August 25, 2021

Long Reads Can Make Short Work of Rare Disease Diagnostics

Why might longer reads improve genetic disease diagnosis? The answer lies, in part, in the types of mutations that cause...

December 12, 2019

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

Our work confirms drugs with genetically supported targets were more likely to be successful in Phases II and III. When...

August 18, 2019

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

Genomic sequencing programs that cater to apparently healthy adults have been started in the past few years at the Mayo...

March 10, 2021

Genomics-driven drug discovery based on disease-susceptibility genes

Genome-wide association studies have identified numerous disease-susceptibility genes. As knowledge of gene–disease associations accumulates, it is becoming increasingly important to...

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...

June 15, 2021

Rapid Genetic Testing May Have Spared This Baby From Death

For an infant with seizures, every passing hour risks more harm to the newborn's brain. That's why this story from...

May 26, 2021

The complete sequence of a human genome

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

October 1, 2019

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

The completion of the first draft of the human genome in 2001 was supposed to kick off an era of...

October 31, 2018

Genetic testing: Opportunities to unlock value in precision medicine

With a growing repository of personalized data at the molecular level, molecular-diagnostics companies are uniquely positioned to unlock value. The...

April 30, 2021

Kansas City Lights the Night with a New Research Institute

Genomic sequencing is giving families hope in the face of uncertainty at Children’s Mercy Hospital in Kansas City Like many...

November 19, 2018

Reading genes for better therapies

BAYER RESEARCHERS ARE APPLYING DISEASE GENOMICS TO GET TO THE BOTTOM OF DISEASES Bayer researchers scrutinize the anonymized DNA of...

March 18, 2020

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

As the pharmaceutical industry continues along the path to precision medicine, drug discovery efforts are just one aspect of the...

November 20, 2020

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

NEW YORK — As whole-genome sequencing becomes a more common testing option, a panel of genetic counselors and others participating...

December 27, 2020

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

Next-generation sequencing (NGS) enabled high-throughput analysis of genotype–phenotype relationships on human populations, ushering in a new era of genetics-informed drug...

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