Searching PubMed for articles relevant to clinical interpretation of rare human genetic variants
نویسنده
چکیده
To the editor: While the speed and cost of genome sequencing has improved dramatically, the task of interpreting gene sequences for clinical purposes remains challenging [1-4]. Thousands of investigations into the pathogenicity of genetic variants have been completed and reported in peerreviewed studies – however – which studies should be reviewed for each patient genome? The task of matching sequenced variants to the available evidence quickly exceeds human capacity.
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ورودعنوان ژورنال:
- CoRR
دوره abs/1602.02911 شماره
صفحات -
تاریخ انتشار 2016