Articles tagged with Exome Sequencing
Researchers identify CNTD1 mutations as a cause of diminished ovarian reserve, characterized by reduced ovarian follicles and compromised fertility. The study establishes CNTD1's essential role in maintaining ovarian function and preserving the follicular reserve required for female fertility.
A study analyzing over 15,000 Latin American individuals identifies 35 genes significantly associated with autism, showing extensive overlap with previously identified genes in European-ancestry cohorts. The findings support the universal biological foundations of autism and highlight the need for diverse populations to be represented ...
A mini-review synthesizes large-scale genomic findings to illuminate the polygenic architecture underlying common epilepsies. Rare genetic variants contribute to epilepsy risk, with shared biological pathways involving ion channel function and synaptic excitability
Researchers identified 33 plasma proteins that differ significantly in patients with ALS, suggesting the disease could be detected up to 10 years before symptoms appear. Machine learning models showed strong performance in separating ALS cases from non-ALS cases, with an accuracy of over 98.3%.
The American College of Medical Genetics and Genomics has released its updated 2025 secondary findings gene list v3.3, adding three new genes to the list and introducing a new publicly available webpage to aid clinical labs in determining reportable variants. The update aims to ensure patient benefit from advances in genomic medicine.
Genalive wins largest outsourced testing service contract in Saudi Arabia's history, covering 83 public hospitals and multiple genomics methodologies. The deal will enhance local precision medicine services with comprehensive solutions for whole genome sequencing, exome sequencing, and more.
Researchers developed a single-assay approach using exome sequencing data to detect large-scale pathogenic mutations, detecting 91 previously undetectable mutations. This shift could enable earlier diagnoses and save the NHS vital resources.
Researchers have discovered a new genetic culprit in canine bladder cancers, with implications for early detection and targeted treatments. The study found that 13 out of 28 cases had a different type of mutation, which could lead to more precise treatment options.
Sarah Jurgensmeyer, MS, CGC, received the 2023 ACMG Foundation Carolyn Mills Lovell Genetic Counselor Award for her platform presentation on increasing access to pediatric genetic services. The award recognizes the increasingly important role of genetic counselors in clinical genetics and genomic medicine.
A novel rare mutation in the ABCA12 gene was identified as a cause of Harlequin Ichthyosis through BGI genetic tests. The mutation leads to a severely dysfunctional protein responsible for the disease's serious phenotype.
Researchers have identified three novel pathogenic variants of the ATR gene as predisposing to male breast cancer. These variants were found in a cohort of individuals with early onset and familial breast cancers, using a combination of exome sequencing and functional investigations. The study suggests that extended genetic analysis ca...
A new study using whole genome sequencing identifies previously unknown mutations driving Hodgkin lymphoma development. The research provides temporal insights into tumor evolution, enabling more precise targeted treatment options.
Researchers developed a two-step approach using whole exome sequencing to predict which patients respond to cancer immunotherapy. The study identified six genes, including KRAS and BRAF, that are enriched in patients who responded to treatment.
Scientists at Emory University have identified Heartland virus in lone star ticks in central Georgia, confirming its active transmission within the state. The study reveals that the virus is evolving rapidly and may be confined to isolated areas, highlighting the need for further research on this emerging infectious disease.
A new study by UCSF researchers uses exome sequencing to identify genetic diseases as the underlying cause in 37 cases of nonimmune hydrops fetalis, a life-threatening condition. The study finds that genetic diagnoses are critical for families and healthcare providers to guide prenatal management strategies.
The new ACMG Points to Consider document provides a comprehensive framework for the safe and effective use of fetal exome sequencing in prenatal diagnosis. The guidelines address concerns around turnaround time, variant reporting, and patient consent, aiming to improve patient care and reproductive choices.
Researchers at Baylor College of Medicine reanalyzed preexisting molecular data with new disease-causing genes and genetic knowledge, increasing the diagnostic rate nearly doubling it in one cohort. The computational pipeline facilitated semi-automated reanalysis, reducing labor intensity and cost.
A state-of-the-art molecular genetic test, exome sequencing, has been found to greatly improve the diagnosis of neurogenetic disorders in children and adults. The test can identify disorders that may have gone undiagnosed for years with greater speed and accuracy.
A genomic test helped doctors solve a medical mystery for a boy with painful spasms. Whole exome sequencing identified the rare condition Episodic ataxia type 1, allowing for targeted treatment and symptom relief. The patient's motor and cognitive functioning have improved since medication was started.
Researchers from Baylor College of Medicine have made significant breakthroughs in whole exome sequencing, confirming a molecular diagnosis in 25% of patients and identifying rare genetic events as major contributors to disease susceptibility. The technology is expected to revolutionize the field of pediatrics and medicine.
A new test using DNA sequencing identifies single mutations causing rare genetic disorders in children, improving diagnosis rates from 5% to 40%. The UCLA Clinical Genomics Center uses the test to provide concrete diagnoses and treatment plans for families seeking answers.
A new test called trio-CES, which sequences the whole exome of the affected individual and both parents simultaneously, was associated with a significantly higher molecular diagnostic yield (31%) compared to proband-CES (22%). In cases of developmental delay in children, trio-CES had a diagnosis rate of 41% compared to 9% for proband-CES.
A new report provides a primer for doctors to effectively use clinical genome and exome sequencing in diagnosing rare childhood diseases. The technology has already identified the genetic cause of disease in about 25% of patients, including Charcot-Marie-Tooth disease and mental retardation.
Research reveals that focusing on coding regions through high-depth coverage whole genome sequencing can accurately identify genetic variations behind CMT, outperforming exome sequencing. Exome sequencing offers greater sensitivity and fewer false positives due to its higher coverage, providing a superior approach for precision medicine.
Researchers identified a genetic translocation that can precipitate disease in adenoid cystic carcinoma, with many disease-associated mutations occurring in genes modifying DNA. Identifying individual mutations will aid in the development of personalized therapy, according to accompanying commentary.
Researchers sequenced exomes of 118 patients with specific neurodevelopmental diseases, identifying numerous disease-causing genes. In approximately 10% of cases, exome sequencing led to the identification of a known disease-causing gene, prompting changes in diagnosis and care for some patients.
Scientists identify the valosin-containing protein (VCP) gene linked to familial amyotrophic lateral sclerosis (ALS), a fatal neurological disease. Further study may lead to novel treatments by transforming the pathological process in ALS patients.
Researchers used whole exome sequencing to discover a single gene at the root of several types of childhood brain disorders, including malformations of cortical development. The study found six unique mutations in the WDR62 gene among 30 families, highlighting its crucial role in human cortical brain development.