Genomic Variant Interpretation

Essential for a pediatric neurologist: Interpretation of a genetic report - Prof. Madhuri Hegde

What is Copy number variation (CNV)? Copy number variation analysis in genome. Importance.

Concept Clearance: Consortium for Understanding Impact of Genomic Variation on Genome Function (RFA)

Sequencing, Variant Calling, and Cancer Genomics

Madhuri Hegde - Genomic Testing, the Emory Experience. 11 06 15

Introduction to Genetics & Genomics - Anjali Bajaj

Genomic Variation and Cancer: Interpretation of variation in cancer susceptibility

Genomic Variants In Bioconductor

Genomic Medicine Informatics

Understanding Copy Number Variation

Tumor Clonal Structure from Somatic Variants

Variant Annotation Using RegulomeDB and HaploReg - Jill Moore

Genomic Medicine X: ClinGen and ClinVar - Heidi Rehm

ClinVar Data: Current Limitations for Germline Variants | Center for Genomic Interpretation | Oct'23

Rapid clinical diagnostic variant investigation of genomic patient sequencing data wi... | RTCL.TV

ESHG 2021 | Optimized Variant Interpretation with the Mastermind Genomic Search Engine | Héritas

Spectra Module: Somatic Variant Detection and Reconstruction of Tumor Clonal Complexity

MPG Primer: ExAC & gnomAD: Using large genomic data sets to interpret human genetic variation (2016)

Omics Logic Genomics - Learn about Analysis of Genomic Data

Genomic Approaches to the Study of Complex Genetic Diseases - Karen Mohlke (2014)

Variant Annotation

Genomic Variants in Pediatric Cancer: Landscape, Precision Oncology, and Data Sharing Ecosystem

Genomic Approaches to the Study of Complex Genetic Diseases - Karen Mohlke (2016)

Structural variant analysis with Oxford Nanopore