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127 Skillsarrange

tooluniverse-structural-variant-analysis

tooluniverse-structural-variant-analysis

Structural variant (SV) clinical interpretation: deletions, duplications, inversions, translocations, complex rearrangements. Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores, gnomAD frequencies, and ClinVar evidence. Produces 5-tier classification with explicit per-criterion evidence. Use for clinical genomics SV review, dosage-sensitivity as…

Daten und ForschungSKILL.mdVollständiges ZIP

tooluniverse-structural-variant-analysis

tooluniverse-structural-variant-analysis

Structural variant (SV) clinical interpretation: deletions, duplications, inversions, translocations, complex rearrangements. Applies ACMG-adapted criteria with ClinGen HI/TS dosage scores, gnomAD frequencies, and ClinVar evidence. Produces 5-tier classification with explicit per-criterion evidence. Use for clinical genomics SV review, dosage-sensitivity as…

Daten und ForschungSKILL.mdVollständiges ZIP

bio-comparative-genomics-synteny-analysis

bio-comparative-genomics-synteny-analysis

Detect syntenic blocks and structural rearrangements between genomes using MCScanX (Wang 2012), JCVI/MCScan (Tang 2008 Python), GENESPACE (Lovell 2022) for orthology-anchored riparian visualization, SyRI for structural variation, AnchorWave for sequence-level synteny, i-ADHoRe 3.0 for highly diverged species, SynNet for synteny networks, and ntSynt for mult…

Design und KreativitätSKILL.mdVollständiges ZIP
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