filtering variants in rare disease trios - genomics dev blog
gnomAD v2.1 | MacArthur Lab
Variant interpretation using population databases: Lessons from gnomAD - Gudmundsson - 2022 - Human Mutation - Wiley Online Library
What to Expect From GnomAD v3.1.2 | The Golden Helix Blog
Systematic evaluation of gene variants linked to hearing loss based on allele frequency threshold and filtering allele frequency | Scientific Reports
Using the Interactive Filter Cascade in QCI Interpret Translational - Bioinformatics Software | QIAGEN Digital Insights
Variant interpretation using population databases: Lessons from gnomAD - Gudmundsson - 2022 - Human Mutation - Wiley Online Library
gnomad-docs/docs/variant-qc.md at master · macarthur-lab/gnomad-docs · GitHub
Effective variant filtering and expected candidate variant yield in studies of rare human disease | npj Genomic Medicine
Filter sets
Effective variant filtering and expected candidate variant yield in studies of rare human disease | npj Genomic Medicine
Genome Aggregation Database on X: "We heard your feedback and updated the way #ClinVar data is displayed on #gnomAD browser. The ClinVar Track now includes: - Displaying variant type through shapes -
Frontiers | Insights on variant analysis in silico tools for pathogenicity prediction
Filtering Logic
Whole-exome sequencing of BRCA-negative breast cancer patients and case–control analyses identify variants associated with breast cancer susceptibility | Human Genomics | Full Text
Comparison of observed and gnomAD filtering allele frequencies (AFs)... | Download Scientific Diagram
Genome Aggregation Database on X: "Another #gnomAD browser update! On variant pages you can now quickly switch between genome builds and gnomAD versions using our new liftover feature. This is available on
How to use gnomAD v2.1 for variant filtering | by Yvonne Kasmann | Limbus News
Protocol for unbiased, consolidated variant calling from whole exome sequencing data
The mutational constraint spectrum quantified from variation in 141,456 humans | bioRxiv
Adopting High-Resolution Allele Frequencies Substantially Expedites Variant Interpretation in Genetic Diagnostic Laboratories - ScienceDirect
gnomAD v3.1 New Content, Methods, Annotations, and Data Availability | gnomAD browser
The genome Aggregation Database (gnomAD) | MacArthur Lab
IVA Latest Improvements - Archive | QIAGEN Digital Insights
Effective variant filtering and expected candidate variant yield in studies of rare human disease | bioRxiv
Effective variant filtering and expected candidate variant yield in studies of rare human disease | npj Genomic Medicine
