ESP

ESP provides the NHLBI Exome Variant Server (EVS) catalog of single nucleotide variants (SNVs) derived from exome sequencing and massively parallel sequencing (MPS) datasets to support genetic analysis of heart, lung, and blood disorders.

Key Features:

• Massively Parallel Sequencing Integration: Integrates massively parallel sequencing (MPS) exome data to capture medically relevant genetic variation.
• Comprehensive Variant Database: Maintains an extensive catalog of single nucleotide variants (SNVs) from large-scale exome sequencing projects relevant to cardiovascular, pulmonary, and hematological systems.
• Genotype-Phenotype Correlation: Provides variant frequency data, literature references, and predictions of causative potential to support genotype–phenotype analyses.
• Standardized Mutation Nomenclature: Employs standardized mutation nomenclature for consistent variant representation across studies.
• Dynamic and Cross-Referenceable Reference Database: Serves as a dynamic reference database that can be cross-referenced with exome and genome sequence data and incorporates expert opinions over time.

Scientific Applications:

• Clinical Genomics: Assists clinical genomics by identifying highly penetrant variants and supporting diagnosis and disease risk prediction for individual patients.
• Research: Supports investigation of the genetic basis of heart, lung, and blood disorders using its variant catalog and annotations.

Methodology:

Collection and annotation of exome sequencing data including gathering SNV data from large-scale exome projects, annotating variants with frequency, literature references, and causation predictions, and maintaining a comprehensive database that supports cross-referencing with other genomic datasets.