Whole Genome Sequencing News and Research

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Innovative array targets methylation in imprinted genes, simplifies epigenetic research

Researchers from North Carolina State University have developed an array that assesses methylation levels of genes located in imprint control regions (ICRs) within the human genome.

25 Jul 2024

'Gene misbehavior' found to be surprisingly common among the healthy population

Scientists have uncovered that 'gene misbehavior' – where genes are active when they were expected to be switched off – is a surprisingly common phenomenon in the healthy human population.

24 Jul 2024

Elite Controllers: Do their genomes hold the key to curing HIV?

Although South Africa has the largest number of people living with HIV worldwide, strides have been made in controlling the epidemic, especially in the reduction of HIV incidence, testing, and treatment. Equipped with MGI’s advanced sequencing tools and technologies, researchers from the South African Medical Research Council (SAMRC) and University of KwaZulu-Natal (UKZN) are inching closer to finding the answer to the natural control of HIV infection, leading to improved health outcomes and quality of life amongst South Africans.

From MGI 19 Jul 2024

ARPP21 gene mutation could be the cause of ALS

Researchers from the Neuromuscular Diseases Group and the Dementia Neurobiology Group of the Sant Pau Research Institute (IR Sant Pau) and the Memory Unit of the Sant Pau Hospital, led by neurologist Dr. Ricard Rojas-García, have identified a new mutation in the ARPP21 gene that could be the cause of Amyotrophic Lateral Sclerosis (ALS), a devastating neurodegenerative disease.

11 Jul 2024

New study reveals the genetic cause of Parkinson's disease

According to Science Alert, neuroscientists from Johns Hopkins University have recently discovered a new treatment for Parkinson's disease using an FDA-approved cancer drug.

11 Jul 2024

Machine learning identifies cancer-driving mutations at CTCF binding sites

Researchers developed a machine learning tool, CTCF-INSITE, to identify mutational hotspots at persistent CTCF binding sites across various cancers, highlighting their role in genomic structure disruption and cancer progression.

7 Jul 2024

Whole genome sequencing can improve clinical care of childhood cancer

Whole genome sequencing has improved clinical care of some children with cancer in England by informing individual patient care.

2 Jul 2024

Study finds genetic links between childhood weight gain and early puberty

Genes can indirectly influence the age at which girls have their first period by accelerating weight gain in childhood, a known risk factor for early puberty, a Cambridge-led study has found.

1 Jul 2024

Researchers shine light on the nuanced functions and intricate regulatory methods of RNA editing

Researchers from the Icahn School of Medicine at Mount Sinai have shed valuable light on the nuanced functions and intricate regulatory methods of RNA editing, a critical mechanism underlying brain development and disease.

28 Jun 2024

AI identifies new high-risk subtype in endometrial cancer

An AI tool to classify histopathological images and differentiate between endometrial cancer subtypes.

28 Jun 2024

AI-based liquid biopsy technology promises early detection of cancer recurrence

An artificial intelligence-powered method for detecting tumor DNA in blood has shown unprecedented sensitivity in predicting cancer recurrence, in a study led by researchers at Weill Cornell Medicine, NewYork-Presbyterian, the New York Genome Center (NYGC) and Memorial Sloan Kettering Cancer Center (MSK).

14 Jun 2024

Precision-guided treatment boosts outcomes in children with high-risk cancers

Study reveals that precision-guided treatment (PGT) improves outcomes in high-risk pediatric cancer patients, but clinical adoption remains low due to physician uncertainty and lack of long-term survival data.

10 Jun 2024

MGI Tech launches whole workflow solution for agricultural large-scale low-pass whole genome sequencing at PAG Asia 2024

MGI Tech Co., Ltd. (“MGI”), a company committed to building core tools and technologies that drive innovation in life science, today announced a highly efficient whole workflow solution for agricultural large-scale Low-pass whole genome sequencing (Low-pass WGS) based on its proprietary DNBSEQTM platforms during this year’s International Plant and Animal Genome Conference Asia (PAG Asia 2024), taking place on June 5-7 in Shenzhen, China.

From MGI 7 Jun 2024

Family's rare telomere mutation reveals new insights into telomere flexibility and disease

Researchers discovered a rare telomere mutation (TTAGGT) in a family, revealing that human telomeres can tolerate non-canonical sequences, impacting telomere maintenance and disease.

4 Jun 2024

Precision medicine doubles progression-free survival in young cancer patients

Cancer is the leading cause of disease-related death in children in most developed countries, and at least a quarter of these patients are diagnosed with aggressive high-risk or relapsed cancers, with an expected five-year survival rate of less than 30%.

31 May 2024

Non-coding gene mutation linked to monogenic neurodevelopmental disorders

Researchers at the Icahn School of Medicine at Mount Sinai and others have identified a neurodevelopmental disorder, caused by mutations in a single gene, that affects tens of thousands of people worldwide.

31 May 2024

Researchers uncover two classes of genetic causes for pediatric chordoma

Little is known about the genetics and biology of chordoma, a rare and aggressive bone tumor. Chordomas occur in approximately one in a million people in the U.S. a year and only five percent of these are in children.

30 May 2024

Study reveals association between ribosomal DNA copy number and disease risk

Ribosomal DNA (rDNA) is present in hundreds of copies in the genome, but has not previously been part of genetic analyses.

15 May 2024

Experts identify highly drug-resistant infections from stem cell treatments In Mexico

Experts in mycobacterial diseases at National Jewish Health, in collaboration with local health departments and the Centers for Disease Control and Prevention (CDC), are investigating a potential outbreak of a highly drug-resistant mycobacterium (germ) after U.S. patients who traveled to Mexico for stem cell injections became sick.

9 May 2024