Articles tagged with Exomes
The study analyzed DNA from over 100,000 participants and found that nearly 2,000 carried at least one genetic variant linked to these diseases. The findings have led to life-changing discoveries and new insights into personalized medicine.
A Mayo Clinic study reveals that current genetic screening protocols fail to detect notable numbers of people carrying hereditary breast and ovarian cancer syndrome and Lynch syndrome mutations. The study identified 550 carriers of these mutations, with half being previously unaware of their risk.
A study published in Oncotarget has identified specific mutational and therapeutic landscapes of pancreatic cancer in the Russian population. By applying machine learning models to full exome individual data, researchers received personalized recommendations for targeted treatment options for each clinical case.
Researchers found that rare gene variants associated with inflammatory bowel disease (IBD) are less prevalent in African Americans, suggesting a different genetic contribution to the disease. The study highlights the importance of considering genetic diversity and admixture in IBD research.
The study validates a comprehensive genomic profiling assay, NeXT Dx, which detects single nucleotide variants, indels, copy number alterations, and gene fusions. The assay demonstrates high analytic sensitivities and specificity, providing personalized recommendations critical to clinical decision-making.
Researchers propose a new method of clustering colorectal cancer patients using differential presence of exons (DPE) sequencing, which can provide valuable information on CRC progression and response to therapy. This analysis may also reduce costs and time required for staging CRC patients.
A massive exome-wide association study identifies rare gene coding variants strongly associated with BMI, including GPR75, which confers protection from obesity in mouse models. This finding provides potential therapeutic targets for treating obesity and demonstrates the power of massive-scale exome sequencing.
A new study from Baylor College of Medicine found that starting genetic analysis with RNA sequencing can increase diagnostic yield by up to 17% in rare genetic diseases. This approach allows for a more comprehensive understanding of the effects of noncoding changes and enhances confidence in diagnoses.
The UK Biobank has released a vast tranche of new genetic data linked to detailed health records, offering an unprecedented resource for understanding human biology and aiding therapeutic discovery. The data includes novel loss of function associations with large effects on disease risk, such as between PIEZO1 and varicose veins.
Researchers sequenced exomes of 60,706 individuals from diverse populations to identify 7.4 million genetic variants, providing unprecedented resolution into low-frequency protein-coding variants. The analysis found only nine pathogenic variants with strong disease associations.
UTHealth researchers have sequenced exomes of 8,554 individuals to identify naturally occurring mutations that inactivate certain genes. The study found eight new relationships between genes and diseases, including a link between TXNDC5 and Type 1 Diabetes progression.
Exome sequencing may miss a high proportion of clinically relevant regions in key disease-causing genes, raising concerns about patient diagnosis. The study's findings highlight the need for improved methods to provide reliable coverage of these genes.
Researchers identified a defective gene responsible for isolated congenital asplenia (ICA), a rare disorder characterized by the absence of the spleen. The RPSA gene mutation affects approximately 50% of patients with ICA, leading to a lack of splenic tissue.
The American College of Medical Genetics and Genomics has released a report on incidental findings in clinical exome and genome sequencing. The report provides guidelines for laboratories to return incidental genetic findings to doctors ordering the tests, who will then manage the information with patients. This is expected to benefit ...
Researchers successfully used exome sequencing to diagnose genetic diseases in patients with intellectual disability, blindness, deafness, movement disorders, cancer, and OXPHOS diseases. The technique was able to identify causative mutations in up to 20% of cases, offering a more efficient alternative to traditional Sanger sequencing.
Two Ontario research facilities, The Centre for Applied Genomics and StemCore Laboratories, have been awarded $10,000 each to develop leading-edge technologies in Next Generation Sequencing (NGS) methods. Dr. Stephen Scherer will compare genome enrichment and exome capture kits, while Pearl Campbell will optimize ChIP-Seq methods.
Researchers discover genetic alterations in the MLL2 gene that account for most cases of Kabuki syndrome, a rare disorder with multiple birth defects and mental retardation. The new DNA sequencing strategy quickly identifies the gene variants responsible for the condition.
The new exome array includes 282,363 target regions representing 240,402 exonic regions, splice sites, proximal promoter regions and microRNAs for comprehensive analysis. This development fills the gap of missing medically important genes in current exome capturing systems.
Researchers developed a novel genome-analysis strategy to rapidly discover possible gene-disease links, enabling the search for disease-causing genes in unrelated individuals with the same condition. The approach uses targeted analysis and newer technology to identify candidate genes for Mendelian disorders, offering a promising soluti...
Researchers sequenced exomes of 12 people to detect rare genetic variants causing diseases. The study found that sequencing exomes can be used to uncover genes contributing to common conditions like diabetes and cancer, enabling personalized medicine.