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I'm looking for an expert in human genetics and genetic variant analysis to help review some variants for me. Familiarity with databases like ClinVar and gnomAD is crucial, as is experience with ACMG guidelines, particularly in variant classification. The focus will primarily be on single nucleotide variants (SNVs). Ideal Skills: - Proficiency in ACMG guidelines for variant classification - Extensive experience with ClinVar and gnomAD - Deep understanding of human genetics - Expertise in reviewing single nucleotide variants (SNVs)
Project ID: 39199303
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Remote project
Active 3 mos ago
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London, United Kingdom
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Member since Jul 26, 2015
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