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All about genetics

All about genetics

Genetic causes of neurodevelopmental disorders: Insights from trio exome sequencing

Neurodevelopmental disorders (NDDs) have diverse genetic origins, making diagnosis challenging. A new study analyzing over 1,100 pediatric patients found that trio-exome sequencing (trio-ES) identifi..

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Newly published study demonstrates insights in anti-EGFR re-challenge and the role of liquid biopsy in metastatic colorectal cancer

Colorectal cancer (CRC) remains one of the most prevalent and deadly cancers worldwide, with a significant number of cases presenting at an advanced stage. If not treated early, CRC can metastasize a..

All about genetics

Mapping human brain development: Insights into neural differentiation and disease risk

The human brain develops through a complex series of events, with genes carefully regulating the formation of neurons and glial cells. A recent study offers a detailed map of this process, tracking h..

All about genetics

The diagnostic odyssey: The search for answers for rare diseases

Rare diseases affect between 300 and 400 million people worldwide – more than cancer and AIDS combined [1, 2], but despite this, many people face a diagnostic odyssey, with an average wait of 4 to ..

All about genetics

Rosalind Franklin: In celebration of International Day of Women & Girls in Science (February 11)

Rosalind Elsie Franklin was a brilliant and meticulous research scientist whose interdisciplinary work made fundamental contributions to various areas of science – the most notable one being to the..

All about genetics

Timeline of cancer history and major discoveries

February, designated as Cancer Awareness Month, marks a time to reflect on the remarkable progress made in cancer research and to inspire hope for the future. From the earliest observations of abnorm..

All about genetics

Long-read sequencing for enhanced multidrug-resistant organisms’ surveillance

Antimicrobial resistance (AMR) is one of the most pressing global health threats, and accurate identification and surveillance of multidrug-resistant organisms (MDRO) are key to controlling its sprea..

All about genetics

Identifying novel genetic variations and effector genes linked with colorectal cancer

Colorectal cancer remains a significant health concern globally. While genetic factors play a crucial role in its development, identifying the exact genes and genetic variations involved continues to..

All about genetics

Gut microbiota and immunotherapy response

A new meta-analysis links trans-kingdom gut microbiota (bacteria, eukaryotes, viruses, archaea) to immune checkpoint inhibitor (ICI) response in cancer patients. Key species, such as Faecalibacterium..

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High diagnostic yield of prenatal exome sequencing in ultrasound anomalies

A study of 629 pregnancies with ultrasound-detected anomalies found that exome sequencing identified pathogenic variants in 14% of cases. The detection rate was higher in fetuses with multiple anomal..

All about genetics

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