Last Updated: 09/26/2026
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Found 100 publications
HPRC2: A human pangenome reference with near-complete coverage of common genetic variation.
Journal: bioRxiv : the preprint server for biology
Published: August 01, 2026
Short-Read Sequencing Benchmarking with Donor-Specific Assemblies.
Journal: bioRxiv : the preprint server for biology
Published: July 03, 2026
Saturation Genome Editing reveals the functional impact of RAD51D and XRCC2 variants.
Journal: bioRxiv : the preprint server for biology
Published: June 22, 2026
Epigenetic conditioning improves sequence-based modeling of gene regulation across cell types and alleles.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2026
Epigenetic conditioning improves sequence-based modeling of gene regulation across cell types and alleles.
Journal: bioRxiv : the preprint server for biology
Published: June 12, 2026
Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.
Journal: medRxiv : the preprint server for health sciences
Published: June 04, 2026
Not Forgotten: Patient Experiences with Genetic Variant Reclassifications.
Journal: medRxiv : the preprint server for health sciences
Published: May 25, 2026
Single-molecule variation in telomeric sequence and structure across humans.
Journal: bioRxiv : the preprint server for biology
Published: May 18, 2026
Single-molecule variation in telomeric sequence and structure across humans.
Journal: bioRxiv : the preprint server for biology
Published: May 18, 2026
Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.
Journal: medRxiv : the preprint server for health sciences
Published: May 07, 2026
Long-read MitoScope reveals tissue-resolved somatic mitochondrial variation and landscape of nuclear-embedded mitochondrial sequences.
Journal: bioRxiv : the preprint server for biology
Published: April 27, 2026
Donor-specific assemblies enhance somatic structural variant detection in complex genomic regions.
Journal: bioRxiv : the preprint server for biology
Published: February 27, 2026
Last Updated: 09/26/2026