Useful Resources and Content
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A Curated Selection of Relevant Reads From Around The Web
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.
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.
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
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
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
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
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.
Advances in Genomics for Drug Development
August 15, 2020
For over 20 years, genomics has been used as a tool for accelerating drug development. Various conceptual approaches and techniques assist target identification, target prioritization and tractability, as well
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
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
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
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
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
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
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
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
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
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
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
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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.
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.
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.
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
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
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
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
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.
Advances in Genomics for Drug Development
August 15, 2020
For over 20 years, genomics has been used as a tool for accelerating drug development. Various conceptual approaches and techniques assist target identification, target prioritization and tractability, as well
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
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
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
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
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
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
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
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
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
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