Autor: Paul W. Hook, Alyson B. Barnes

In genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…

In genomic medicine, continuously updated public archives of genetic variants linked to clinical phenotypes, such as ClinVar and the Matchmaker Exchange, are essential for variant interpretation, patient diagnosis, and treatment. This form of data shar…

Whereas cis-acting regulatory variants are located near their target genes and affect regions such as promoters and enhancers, trans-acting regulatory variants can be located anywhere in the genome and affect expression through a variety of indirect me…

Whereas cis-acting regulatory variants are located near their target genes and affect regions such as promoters and enhancers, trans-acting regulatory variants can be located anywhere in the genome and affect expression through a variety of indirect me…

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…