Genomics News and Research

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Genomics is the study of the complete genetic material, including genes and their functions, of an organism.

New deep learning model lays the foundation for specialized diagnostic models

Mount Sinai researchers have developed an innovative artificial intelligence (AI) model for electrocardiogram (ECG) analysis that allows for the interpretation of ECGs as language. This approach can enhance the accuracy and effectiveness of ECG-related diagnoses, especially for cardiac conditions where limited data is available on which to train.

7 Jun 2023

Researchers characterize the expression of cardiac proteins during embryonic heart development

Researchers at the UNC School of Medicine, UNC McAllister Heart Institute, and the UNC Lineberger Comprehensive Cancer Center characterized the expression of thousands of cardiac proteins during eight critical stages of embryonic heart development.

6 Jun 2023

SickKids scientists shine light on the complex genetics that underlie blood pressure regulation

Scientists at The Hospital for Sick Children (SickKids) are delving deep into the non-coding genome to unravel the complex genetics that underlie blood pressure regulation and hypertension (high blood pressure) – the leading cause of cardiovascular disease affecting 1.25 billion people worldwide.

6 Jun 2023

COLOTECT 1.0 receives market authorization from Malaysia's Medical Device Authority

Recently, BGI Genomics' COLOTECT 1.0 DNA Methylation Detection Kit for Human SDC2, ADHFE1, and PPP2R5C Genes (Real-Time PCR), Sample Pretreatment Kit for Methylation Detection, DNA Isolation Kit, Stool Sample Collection Kit have received market authorization from Malaysia's Medical Device Authority (hereinafter referred to as MDA).

6 Jun 2023

Large-scale comprehensive sequencing helps downstream medical care in newborns

Researchers who lead the world's first comprehensive sequencing program for newborn infants have published the next chapter in the ongoing study of the BabySeq Project, with new findings on infants and families who have been followed for 3-5 years.

6 Jun 2023

New pangenome reference could deepen our understanding of human biology and disease

The first human genome, which has served as the reference until now, was released approximately 20 years ago.

5 Jun 2023

New research reveals the genetic diversity and evolutionary history of primates

The rich genetic diversity and evolutionary history of primates – the group that includes monkeys, apes, lemurs and humans ourselves - has been revealed in full for the first time in a new research paper published today.

5 Jun 2023

SWOG Cancer Research Network clinical trial reveals potential new therapy for Stage 3 or 4 classic Hodgkin lymphoma

A Phase 3 trial has demonstrated that patients with advanced stage (3 or 4) classic Hodgkin lymphoma who underwent initial treatment with nivolumab, a PD-1 checkpoint inhibitor, and AVD chemotherapy (N-AVD) had a significantly lower risk of their cancer getting worse than patients treated with brentuximab vedotin, a monoclonal antibody, and AVD (BV-AVD) a year after starting treatment.

4 Jun 2023

Research on the first-ever human pangenome reference helps better understand chromosome biology

Researchers from the University of Tennessee Health Science Center have made a foundational discovery about chromosome biology through their work on the first-ever human pangenome reference.

2 Jun 2023

"Deep sequencing" of the genome informs diagnoses and treatment of vascular anomalies

Researchers from Children's Hospital of Philadelphia (CHOP) recently discovered that extremely thorough "deep sequencing" of the genome in tissue samples and cell-free DNA of patients with potentially life-threatening vascular anomalies captured several genetic variants related to disease that were not captured with conventional genetic sequencing methods.

1 Jun 2023

CardioGen upgrade facilitates more accurate diagnosis of monogenic cardiovascular diseases

Over 2,800 cases, representing a 31% increase, added to BGI Genomics-led CardioGen's hereditary cardiovascular disease gene data.

From BGI Genomics 1 Jun 2023

Researchers create an open-source, reproducible analysis platform for pediatric brain tumors

Researchers from Children's Hospital of Philadelphia, the Alex's Lemonade Stand Foundation Childhood Cancer Data Lab, the Children's Brain Tumor Network, the Pacific Pediatric Neuro-Oncology Consortium, and more than 20 additional institutions have partnered to create a first-of-its-kind open-source, reproducible analysis platform for pediatric brain tumors.

31 May 2023

Computational approach could help pinpoint causal variants in the noncoding genome

Less than two percent of the human genome codes for proteins, with the rest being noncoding and likely helping with gene regulation.

30 May 2023

Verifying the healthcare, nutritional and environmental applications of new Antarctic bacteria

A scientific collaboration between the University of São Paulo (USP) in Ribeirão Preto, Brazil, and Clemente Estable Institute of Biological Research (IIBCE) in Montevideo, Uruguay, is experimenting with two new bacteria discovered in the Antarctic ten years ago, in order to verify the possibility of applications in healthcare, food processing and environmental rehabilitation.

30 May 2023

Researchers find oldest evidence of the plague in Britain to date

Researchers at the Francis Crick Institute have identified three 4,000-year-old British cases of Yersinia pestis, the bacteria causing the plague – the oldest evidence of the plague in Britain to date, reported in a paper published today in Nature Communications.

30 May 2023

Penn State researchers create first protein-based nano-computing agent

The first protein-based nano-computing agent that functions as a circuit has been created by Penn State researchers.

26 May 2023

Two bacteria that co-occur with C. difficile as emerging potential threats in planetary health

A new study published in the peer-reviewed OMICS: A Journal of Integrative Biology identified genes for virulence and antimicrobial resistance in two bacteria that co-occur with C. difficile, suggesting these pathogens as emerging potential threats in planetary health.

26 May 2023

Genomics News and Research

Further Reading

New deep learning model lays the foundation for specialized diagnostic models

Researchers characterize the expression of cardiac proteins during embryonic heart development

SickKids scientists shine light on the complex genetics that underlie blood pressure regulation

COLOTECT 1.0 receives market authorization from Malaysia's Medical Device Authority

Large-scale comprehensive sequencing helps downstream medical care in newborns

New pangenome reference could deepen our understanding of human biology and disease

New research reveals the genetic diversity and evolutionary history of primates

SWOG Cancer Research Network clinical trial reveals potential new therapy for Stage 3 or 4 classic Hodgkin lymphoma

Research on the first-ever human pangenome reference helps better understand chromosome biology

"Deep sequencing" of the genome informs diagnoses and treatment of vascular anomalies

CardioGen upgrade facilitates more accurate diagnosis of monogenic cardiovascular diseases

Researchers create an open-source, reproducible analysis platform for pediatric brain tumors

Computational approach could help pinpoint causal variants in the noncoding genome

Verifying the healthcare, nutritional and environmental applications of new Antarctic bacteria

Researchers find oldest evidence of the plague in Britain to date

Penn State researchers create first protein-based nano-computing agent

Two bacteria that co-occur with C. difficile as emerging potential threats in planetary health

Top-Down Proteomics: Bridging the Genotype-to-Phenotype Gap

Study examines the role of genetic variants across diverse ancestries in regulating gene expression

Bridging the Gap between Academia and Industry: The Power of Collaboration in Life Sciences

NGS for Infectious Disease Surveillance eBook

Latest eBooks

Industry Focus eBook - Analytical Chemistry (3rd edition)

Industry Focus eBook - Microbiome (1st edition)

Industry Focus eBook - Cell biology (5th edition)

Advancing degrader and proximity-based drug development

Designing fluidic architecture for scalable diagnostic platforms

Evaluating new approaches for rare disease genomics

Expanding access to NMR with the Fourier 80 Duo