Next-generation sequencing technology has rapidly accelerated the discovery of genetic
variants of interest in individuals with rare diseases. However, showing that these variants …

Iterative advances in understanding of the genetics of type 1 diabetes have identified> 70
genetic regions associated with risk of the disease, including strong associations across the …

Abstract Machine Learning-based scoring and classification of genetic variants aids the
assessment of clinical findings and is employed to prioritize variants in diverse genetic …

Abstract The UCSC Genome Browser (https://genome. ucsc. edu) is a web-based genomic
visualization and analysis tool that serves data to over 7,000 distinct users per day …

Sequence-based machine-learning models trained on genomics data improve genetic
variant interpretation by providing functional predictions describing their impact on the cis …

Abstract Ensembl (https://www. ensembl. org) is a freely available genomic resource that has
produced high-quality annotations, tools, and services for vertebrates and model organisms …

Modern medicine is increasingly focused on personalized medicine, and multi-omics data is
crucial in understanding biological phenomena and disease mechanisms. Each ethnic …

The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …

Underrepresented populations are often excluded from genomic studies owing in part to a
lack of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human …

Noncoding DNA is central to our understanding of human gene regulation and complex
diseases,, and measuring the evolutionary sequence constraint can establish the functional …