Overview
- Overview - top-level summary of the current collection.
Sources
- Multi-platform discovery of haplotype-resolved structural variation in human genomes - deep-ingested benchmark source page.
- Construction of a trio-based structural variation panel utilizing activated T lymphocytes and long-read sequencing technology - deep-ingested population SV reference source page.
- Approaches to long-read sequencing in a clinical setting to improve diagnostic rate - deep-ingested clinical workflow source page.
- Long-read whole-genome analysis of human single cells - deep-ingested frontier application source page.
- Utility of long-read sequencing for All of Us - deep-ingested biobank deployment source page.
- Comparative evaluation of SNVs, indels, and structural variations detected with short- and long-read sequencing data - deep-ingested benchmarking source page.
- Long-read genome sequencing resolves complex genomic rearrangements in rare genetic syndromes - deep-ingested rearrangement-resolution source page.
- Long-read sequencing of 945 Han individuals identifies structural variants associated with phenotypic diversity and disease susceptibility - deep-ingested population interpretation source page.
- Long read sequencing enhances pathogenic and novel variation discovery in patients with rare diseases - deep-ingested rare-disease workflow source page.
- Structural variation in 1,019 diverse humans based on long-read sequencing - deep-ingested diverse population atlas source page.
Entities
Concepts
- Structural variation - corpus-level synthesis of why long-read WGS changes SV discovery and interpretation.
- Long-read vs short-read WGS - current tradeoff map across variant classes and use cases.
- HiFi vs ONT - platform comparison as represented in this corpus.
- Rare disease diagnostics - clinical synthesis across targeted and unified long-read workflows.
- Population-scale SV atlases - role of long-read cohort resources in discovery and filtering.
- Complex rearrangements and hard regions - where long reads most clearly improve interpretability.
Queries
- compare retrieval strategies - saved research question.
Syntheses
- Long Read WGS Starter Corpus - deep-ingested corpus map, cross-paper claims, and tensions.