Hi, I'm working with human exome samples. I'm hoping to pick out any mutations that have been previously reported as clinically significant, but I'm not sure which online databases or annotation tracks are the best to use for this. OMIM was my first guess, but their FAQ states that they don't list all known function-altering allelic variants. Any suggestions? (Sorry if this is a newbie question)
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Centralized resource for clinical geneticists, genetic counselors and other healthcare professionals to find clinical and research, molecular, cytogenetic, biochemical and serology tests for human health and Mendelian disorders, pharmacogenetic drug responses, somatic phenotypes, complex conditions and infectious diseases like COVID-19. There is information about the disease, genes and links to practice guidelines and authoritative resources like GeneReviews, PubMed, MedlinePlus, PharmGKB to support the clinician's informed test selection.
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Innovations in next-generation sequencing technologies and techniques are driving more precise and comprehensive exploration of complex biological systems. Current advancements include improved accessibility for long-read sequencing and significant progress in single-cell and 3D genomics. This article explores some of the most impactful developments in the field over the past year.
Long-Read Sequencing
Long-read sequencing has seen remarkable advancements,...-
Channel: Articles
12-02-2024, 01:49 PM -
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