Danny E. Miller

Pediatrics

4800 Sand Point Way NE
Seattle, WA 98105

Last Updated: 09/26/2026

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Found 119 publications

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns.

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns.

Journal: medRxiv : the preprint server for health sciences

Published: July 17, 2026

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns.

Benchmarking long-read variant sensitivity across ONT and PacBio platforms using known clinically reported variants in a cohort of critically ill newborns.

Journal: medRxiv : the preprint server for health sciences

Published: July 17, 2026

Determinants of haplotype phasing accuracy in long-read human genome sequencing.

Determinants of haplotype phasing accuracy in long-read human genome sequencing.

Journal: bioRxiv : the preprint server for biology

Published: July 02, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Building an Interoperable Rare Disease Multi-omic Resource: The GREGoR Data Model and Dataset.

Journal: bioRxiv : the preprint server for biology

Published: June 04, 2026

Phenotype-Specific Recalibration of MAVE Data Enables Repurposing of BAP1 Functional Assays for Küry-Isidor Syndrome.

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

Genome-wide detection and clinical prioritization of tandem repeat outliers using long-read sequencing.

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

Telomeric amplicons of SUL1 and Y' in yeast are generated by microhomology-mediated break induced replication occurring in cis.

Telomeric amplicons of SUL1 and Y' in yeast are generated by microhomology-mediated break induced replication occurring in cis.

Journal: bioRxiv : the preprint server for biology

Published: April 17, 2026

Telomeric amplicons of SUL1 and Y' in yeast are generated by microhomology-mediated break induced replication occurring in cis.

Telomeric amplicons of SUL1 and Y' in yeast are generated by microhomology-mediated break induced replication occurring in cis.

Journal: PLoS genetics

Published: April 16, 2026

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes.

A comprehensive assessment of tandem repeat genotyping methods for Nanopore long-read genomes.

Journal: bioRxiv : the preprint server for biology

Published: March 23, 2026

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Multiomic approaches identify a rare CCG repeat expansion in BCLAF3 in neurodevelopmental disorders.

Journal: Genome medicine

Published: January 20, 2026

needLR: Long-read structural variant annotation with population-scale frequency estimation.

needLR: Long-read structural variant annotation with population-scale frequency estimation.

Journal: ArXiv

Published: December 19, 2025

Showing 1-12 of 119

Last Updated: 09/26/2026