In recent years, the development of large-scale sequencing projects has identified numerous genomic variants in the human genome. For instance, the NyuWa genome resource (Cell Reports, 2021), led by ...
Advances in sequencing technologies allow scientists to uncover unique somatic and germline mutations that drive cancer. However, the large amount of data and complex bioinformatics involved in ...
The clinical interpretation of genetic testing results remains one of the most significant hurdles in effectively applying genomics in modern medicine. Errors in variant interpretation, whether false ...
Whether we are predisposed to particular diseases depends to a large extent on the countless variants in our genome. However, particularly in the case of genetic variants that only rarely occur in the ...
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