Konrad Platzer
@platzer_k
Institute of Human Genetics @hug_leipzig @UKL_Leipzig • 👨💻 neurodevelopmental disorders (w/ epilepsy) 🧠 • rare diseases • gene discovery • apprentice in 📸
ID: 1182340219951034369
10-10-2019 17:01:35
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„Absent from gnomAD“ is not what it used to be w/ the new Genome Aggregation Database v4 release. We need to be more tolerable for occurrence of rare disease variants in gnomAD (due to UK Biobank I guess). Overall frequencies should be fine though just total absence should not be expected.