enhance or replace manual curation tasks, we aim to both improve the sustainability and relevance of consumer health information, but also to develop a foundational database, from which translational science researchers may start to unravel disease characteristics that are vital to the research process...
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Volume: 21, P: 7 Elucidating the genomic basis of rare pediatric neurological diseases in Central Asia and Transcaucasia Rauan Kaiyrzhanov Nazira Zharkinbekova Henry Houlden Correspondence22 Nov 2024Nature Genetics Volume: 56, P: 2582-2584 Nature.com...
Historically, most large-scale immunogenomic studies—those exploring the association between genes and disease—were conducted with a bias toward individuals of European ancestry. Corey T. Watson, Ph.D., assistant professor ... Jun 29, 2021 ...
the Genetic Rare Diseases Information Center (GARD) reported that there were about 7,000 known rare disease cases, which accounted for about 1 in 10 people, and 30 million people in the United States had a rare disease during 2020-2021. Thus, the high prevalence of rare diseases is increasi...
The Knight-Alzheimer Disease Research Center (Knight-ADRC) at Washington University in St. Louis has pioneered and led worldwide seminal studies that have expanded our clinical, social, pathological, and molecular understanding of Alzheimer Disease. Over more than 40 years, research volunteers have be...
Scientists have created the world's largest publicly available database of genetic variants—changes in DNA that can sometimes lead to disease. The use of this resource, called theGenome Aggregation Database (gnomAD)and including information from over 140,000 people from across the globe, is descr...
Knowledge of the molecular etiology of neurodegenerative brain diseases (NBD) has substantially increased over the past three decades. Early genetic studies of NBD families identified rare and highly penetrant deleterious mutations in causal genes that segregate with disease. Large genome-wide association ...
Broad Clinical Labs will use an all-Illumina single-cell workflow for applications in disease modeling and drug development. Open-Source AI Model Aims to Analyze, Design Genomic Complex Biological Architecture The newly released Evo 2 model can analyze complex sequence data and generatively design new...
"It's an interesting population," says Sclafani "and one that may hold information about many kinds of cancer."