Autor: Paul W. Hook, Alyson B. Barnes

Nondisjunction, the failure of chromosomes to separate, results in aneuploidies, in which cells have an abnormal number of chromosomes. Centromeres play an essential role in segregation of homologous chromosomes and sister chromatids. It has been hypot…

Nondisjunction, the failure of chromosomes to separate, results in aneuploidies, in which cells have an abnormal number of chromosomes. Centromeres play an essential role in segregation of homologous chromosomes and sister chromatids. It has been hypot…

Existing best practices for pre-clinical and clinical research are not well-suited for individualized therapeutic approaches that leverage new treatment modalities, such as antisense oligonucleotides (ASOs). The increasing number of individualized ASOs…

Existing best practices for pre-clinical and clinical research are not well-suited for individualized therapeutic approaches that leverage new treatment modalities, such as antisense oligonucleotides (ASOs). The increasing number of individualized ASOs…

Population cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, i…

Population cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, i…

Population cohorts have enabled the discovery of genetic variants associated with a multitude of human phenotypes. While the focus is usually on SNPs, other types of variants have been shown to be impactful, including tandem repeats (TRs). Typically, i…

Polygenic risk scores (PRSs) are promising tools that have the potential to help translate findings from genetic association studies into clinically meaningful health insights. As work on PRSs has increased, it has become clear that the accuracy of the…

As genomic medicine is being increasingly integrated into healthcare systems, we’re seeing a shift in workforce needs. More clinicians, genetic counselors, and scientists need specific training in variant interpretation, but education, training initiat…

The current biotechnology industry is characterized by intense competition. Although this competition can drive innovation and increased investment, too much competition can prevent collaboration and potentially foster a culture in which data and metho…