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زیست شناسی::
پایگاهدادههای جهش ژنوم انسان
developments in genetic databases (such the 1000 Genomes, HGMD for germline mutations, and COSMIC for cancer) and computational algorithms
HGMD for germline mutations (http://www.hgmd.cf.ac.uk/ac/index.php) and
in multiple variant collections (dbSNP, 1000 genomes, NEIHS exome variant project, HGMD).
The Human Genome Mutation Database (HGMD, http://www.hgmd.cf.ac.uk)
HGMD can assist in verifying if an observed mutation has been previously reported and in understanding
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