Background Monogenic disorders are a major cause of fetal structural anomalies. Most genetic diagnoses involve de novo, biallelic or X linked variants; however, inherited variants in autosomal ...

Abstract: Deep neural networks are known to be susceptible to imperceptible adversarial perturbations. Many studies aim to interpret adversarial examples in the frequency domain. However, existing ...

Somatic mutations accumulate during the first zygotic division and continue throughout an organism’s lifespan. The characteristics and frequency of these mutations are contingent on developmental ...

Much of the controversy about the forensic use of DNA has involved population genetics. In this chapter, we first explain the principles that are generally applicable. We then consider the special ...

The Nature Index 2025 Research Leaders — previously known as Annual Tables — reveal the leading institutions and countries/territories in the natural and health sciences, according to their output in ...

Panelists discuss that, based on EMERALD trial data, elacestrant provides consistent clinical benefit in metastatic breast cancer regardless of ESR1 mutation allele frequency, supporting the use of ...

Age-related germline landscape of endometrial cancer: Focus on early-onset cases. Estimated prevalence of pathogenic variants in patients with breast, colon, and/or endometrial cancer who do not meet ...

Molecular response to therapy in early-stage PV patients correlates with improved event-free survival outcomes. Ropeginterferon alfa-2b significantly reduces JAK2V617F variant allele frequency, ...

PHILADELPHIA--(BUSINESS WIRE)--FORE Biotherapeutics, a registration stage biotherapeutics company dedicated to developing targeted therapies to treat patients with cancer, today presented new ...

Risks of Organ Preservation in Rectal Cancer: Data From Two International Registries on Rectal Cancer Clonal and subclonal mutations (variant allele frequency ≥5%) in ALK confer inferior prognosis for ...

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