Whole Genome Sequencing News and Research

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Study identifies novel IgAN loci through pleiotropy

IgA nephropathy (IgAN) is a prevalent form of primary glomerulonephritis characterized by the deposition of IgA in the glomerular mesangium, leading to a spectrum of histopathological lesions and a variable clinical course that can progress to end-stage renal disease in a significant proportion of patients.

2 Jan 2025

Study provides new insights into the genetic underpinnings of pediatric cancers

Largescale changes in the genome inherited from parents are significant risk factors for pediatric solid tumors, such as Ewing sarcoma, neuroblastoma, and osteosarcoma, according to a new study.

2 Jan 2025

New insights into glioblastoma resistance to temozolomide

In spite of intensive research, glioblastoma remains one of the most lethal types of brain cancer. Temozolomide (TMZ) is used as the front-line medicine in its treatment.

19 Dec 2024

Study reveals evidence of 22 viruses in human semen post-infection

This study uncovers the persistence of 22 viruses in human semen, emphasizing the need for updated public health strategies and insights into fertility impacts.

16 Dec 2024

Modified chemotherapy regimen for Hodgkin lymphoma reduces long-term side effects

A simple change to the chemotherapy regimen for people with Hodgkin lymphoma could reduce the long-term health impacts that can result from treatment, according to researchers in Cambridge.

11 Dec 2024

Two studies show potential for newborn genetic screening

Two studies published today in the American Journal of Human Genetics show the potential for genomic screening in newborns to address high rates of infant hospitalization and mortality in the United States.

9 Dec 2024

Genomic conservation in Thailand's mangroves

In this interview, Wirulda Pootakham, the Director of Thailand's National Omic Centre, talks to NewsMedical about genomic conservation in Thailand's mangroves.

From MGI 6 Dec 2024

Novel single-cell genomics analysis approach provides direct insights into cell cycle and proliferation

By inferring proliferation rates from single-cell genomics, SPRINTER enhances understanding of tumor evolution and identifies key clones in cancer progression.

4 Dec 2024

Tagomics announces a multiomic profiling co-marketing agreement with Agilent

Tagomics Ltd., a pioneering biomarker discovery and diagnostics company, today announced it has entered into a strategic co-marketing agreement with Agilent Technologies, a leading tools provider in the genomics sector.

From Tagomics Ltd. 26 Nov 2024

Groundbreaking research sheds light on mitochondrial DNA depletion syndrome

Mitochondrial DNA depletion syndrome (MTDPS) is a rare genetic disorder characterized by a marked decrease in mitochondrial DNA (mtDNA).

25 Nov 2024

Study identifies DNA collisions driving genetic changes in cancer

Cancer researchers at the University of Chicago and the University of California, San Francisco (UCSF) have discovered that mutations in certain genes can lead to the accumulation of DNA errors, resulting in a specific type of genetic change known as large tandem duplications (TDs) that can arise from the collision of two critical cellular processes: transcription and DNA replication.

20 Nov 2024

Rare variant analysis reveals genetic spectrum of monogenic diabetes genes

This study links rare genetic variants to type 2 diabetes risk, emphasizing their role in monogenic diabetes and potential for precision medicine integration.

18 Nov 2024

Scientists discover key genetic factors behind testicular cancer

Scientists have identified new gene faults and evolutionary patterns contributing to testicular cancer. Their findings offer profound insights into the development of the disease and into potential treatment strategies.

14 Nov 2024

New antibiotic-resistant bacteria strain may be spreading across Asia

A virulent new strain of antibiotic-resistant bacteria that causes severe disease could be spreading widely across Asia - posing significant challenges to global public health, a new study reveals.

7 Nov 2024

Groundbreaking study sheds light on stem cell dynamics post-transplant

For the first time, scientists have tracked what happens to stem cells decades after a transplant, lifting the lid on the procedure that has been a medical mystery for over 50 years.

1 Nov 2024

Mitochondrial genetics shed light on ALS Risk and protection

Using sequencing techniques, researchers associated 51 mutations in mitochondrial DNA with amyotrophic lateral sclerosis (ALS), an incurable degenerative neurological disorder that leads to muscle atrophy and paralysis.

31 Oct 2024

Fabric Genomics partners with Intermountain Children’s Health to enhance precision diagnosis of infants and children using whole genome sequencing from Broad Clinical Labs

Fabric Genomics, the leader in artificial intelligence (AI)-powered next generation sequencing interpretation, is announcing a new partnership with Intermountain Children’s Health to analyze the whole genomes of children sequenced by the Broad Clinical Labs to help speed diagnosis of kids who may have genetic diseases.

From Fabric Genomics 30 Oct 2024