pb-human-wgs-workflow-snakemake software on GitHub in support of 'Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases'

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pb-human-wgs-workflow-snakemake software on GitHub

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6 Research products, page 1 of 1

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing
2024IsRelatedTo
Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort
2022IsRelatedTo
Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing
2024IsRelatedTo
Long-read genome sequencing increases genomic yield in congenital heart disease
2025IsRelatedTo
Comprehensive de novo mutation discovery with HiFi long-read sequencing
2023IsRelatedTo
Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases
2023IsRelatedTo

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pb-human-wgs-workflow-snakemake software on GitHub

pb-human-wgs-workflow-snakemake software on GitHub

6 Research products, page 1 of 1

Unravelling undiagnosed rare disease cases by HiFi long-read genome sequencing

Direct haplotype-resolved 5-base HiFi sequencing for genome-wide profiling of hypermethylation outliers in a rare disease cohort

Identification of a novel non-coding deletion in Allan-Herndon-Dudley syndrome by long-read HiFi genome sequencing

Long-read genome sequencing increases genomic yield in congenital heart disease

Comprehensive de novo mutation discovery with HiFi long-read sequencing

Beyond the exome: utility of long-read whole genome sequencing in exome-negative autosomal recessive diseases