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New in Genetics

New in Genetics

Paired DNA-RNA testing enhances variant detection in colorectal cancer patients

Traditional DNA tests may overlook 10% of classic in Familial Adenomatous Polyposis (FAP) cases. By integrating RNA sequencing, researchers unveiled novel APC variants in six families, explaining mis..

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Prevalence of chromosomal alterations in first-trimester spontaneous pregnancy loss

Aiming to evaluate the role of chromosomal aneuploidy in pregnancy loss, a 2023 study 35 years in the making evaluated the genomic landscape of first-trimester spontaneous pregnancy loss [1]. The aim..

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Mapping placental signals: Potential to predict premature birth

Researchers created a detailed map of the placenta during labor. By studying how maternal and fetal cells communicate, they discovered signals in the mom's blood that indicate labor and even early bi..

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A new genome screening study reveals cancer genes and genomic signatures that affect patient outcomes and can help in personalized cancer therapy

A recent paper published in Nature Medicine (1) aimed to identify genes and genomic biomarkers which can better predict outcomes and personalized therapy for cancer patients by integrating genetic wi..

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Non-Invasive Prenatal Testing (NIPT): Current guidelines

Aneuploidies, such as translocations, whole or segmental chromosomal duplications, and deletions, are examples of chromosomal abnormalities that are estimated to affect approximately 1 in 150 live bi..

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Mitochondrial transfer: Impact on cancer and immunity

Mitochondria, those cellular powerhouses, are at the heart of metabolic activities. Recent research reveals a one-sided transfer of mitochondria from T cells to cancer cells, a process that strengthe..

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The impact of travel on gut health and antibiotic resistance

Have you ever wondered how jet-setting across the globe might affect your gut health? A recent study has dug into this intriguing question, revealing that travel can have some unexpected impacts on t..

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Unraveling variant misclassification: Insights from ClinVar and HGMD databases

Genetic variant databases are vital for interpreting genetic variations in clinical settings and research. However, misclassified variants can create challenges. A recent study analyzed archives of C..

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Decoding genetic variants: ClinGen’s expert recommendations for evaluating splicing variant data

The ClinGen Sequence Variant Interpretation Working Group has published recommendations on how to evaluate splicing variant data, offering standardized guidance on evidence codes and functional data ..

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Improved human pangenome identifies more genetic variations

Exciting news in genetic research! The Human Pangenome Reference Consortium has unveiled an improved version of the human pangenome reference. This comprehensive reference includes genetic informatio..

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