7e0dfcdd7ebd1eb552c2d7a367ac02b997e74026 max Fri Aug 14 07:54:16 2026 -0700 longReadVariants: add Boehringer ONT 888 callset to 1000 Genomes table, reword table intro diff --git src/hg/makeDb/trackDb/human/lrSv.html src/hg/makeDb/trackDb/human/lrSv.html index 4901b321bcc..e4eb02ad191 100644 --- src/hg/makeDb/trackDb/human/lrSv.html +++ src/hg/makeDb/trackDb/human/lrSv.html @@ -244,32 +244,32 @@
Note: there is likely some overlap in sample composition across these collections. For example, 1000 Genomes samples are also included in HPRC and CoLoRSdb.
Several of the datasets above are long-read callsets on the 1000 Genomes Project samples, produced by different groups with different technologies and variant-calling strategies. The 1KG Lin merged track combines these and added more 1000 genomes assemblies for a -single 1,218-individual callset (Lin et al., submitted). The table below lists -the merged release and the callsets that contribute to it. +single 1,218-individual callset (Lin et al., submitted). The table below +summarizes all callsets obtained from 1000 Genomes samples.
| Callset | N samples | Study | Data source | Variant calling | UCSC track | ||||
|---|---|---|---|---|---|---|---|---|---|
| Lin_1218 | 1,218 | Lin et al., A high-resolution human pangenome structural variant resource for improved disease association | HGSVC3, HPRC2 293 graph+linear, UW ONT (480; 383 newly generated by UW, 97 from Gustafson et al.), Vienna ONT (445) | @@ -280,30 +280,38 @@Vienna ONT | 1,019 | Schloissnig et al., Structural variation in 1,019 diverse humans based on long-read sequencing | Low-pass 17x ONT | Graph-based | 1KG Vienna ONT |
| UW ONT | 100 | Gustafson et al., High-coverage nanopore sequencing of samples from the 1000 Genomes Project | High-coverage 37x ONT | Linear-reference-based | 1KG UW ONT | ||||
| Boehringer ONT 888 | +888 | +Noyvert et al., Imputation of structural variants using a multi-ancestry long-read sequencing panel enables identification of disease associations | +Oxford Nanopore long reads (5 ancestry groups) | +Sniffles2 | +1KG Boehringer ONT 888 | +||||
| HPRC2 Minigraph-Cactus | 232 | Lucas et al., HPRC2: a human pangenome reference with near-complete coverage of common genetic variation | Near-T2T assembly (30x-60x HiFi+ONT), a linear callset was included for Lin et al merge. | Minigraph-cactus graph | HPRC v2.1 | ||||
| HGSVC3 | 65 | Logsdon et al., Complex genetic variation in nearly complete human genomes | Near-T2T assembly (37-40x HiFi+ONT) | Linear-reference-based | HGSVC3 |