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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Another starting point is GeneTests
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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Researchers using sequencing and genomics tools often have to make trade-offs. They can choose between speed or scale, short reads or long-range information, or targeted panels or a view of the whole transcriptome. New technologies that have been released this year are built to address those tough choices.
We asked six companies the same four questions to learn about their latest products. The new technologies bring a lot to the table, including rethinking sequencing...-
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