The Human Pangenome Project: a global resource to map genomic diversity
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …
due for a major update. Its current structure is a linear composite of merged haplotypes from …
The All of Us Data and Research Center: Creating a Secure, Scalable, and Sustainable Ecosystem for Biomedical Research
KR Mayo, MA Basford, RJ Carroll… - Annual review of …, 2023 - annualreviews.org
The All of Us Research Program's Data and Research Center (DRC) was established to
help acquire, curate, and provide access to one of the world's largest and most diverse …
help acquire, curate, and provide access to one of the world's largest and most diverse …
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2022 update
Nucleic Acids Research, 2022 - academic.oup.com
Galaxy is a mature, browser accessible workbench for scientific computing. It enables
scientists to share, analyze and visualize their own data, with minimal technical …
scientists to share, analyze and visualize their own data, with minimal technical …
A draft human pangenome reference
Abstract Here the Human Pangenome Reference Consortium presents a first draft of the
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
human pangenome reference. The pangenome contains 47 phased, diploid assemblies …
The complete sequence of a human Y chromosome
The human Y chromosome has been notoriously difficult to sequence and assemble
because of its complex repeat structure that includes long palindromes, tandem repeats and …
because of its complex repeat structure that includes long palindromes, tandem repeats and …
A complete reference genome improves analysis of human genetic variation
Compared to its predecessors, the Telomere-to-Telomere CHM13 genome adds nearly 200
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
million base pairs of sequence, corrects thousands of structural errors, and unlocks the most …
GA4GH: International policies and standards for data sharing across genomic research and healthcare
Summary The Global Alliance for Genomics and Health (GA4GH) aims to accelerate
biomedical advances by enabling the responsible sharing of clinical and genomic data …
biomedical advances by enabling the responsible sharing of clinical and genomic data …
The Galaxy platform for accessible, reproducible and collaborative biomedical analyses: 2018 update
Abstract Galaxy (homepage: https://galaxyproject. org, main public server: https://usegalaxy.
org) is a web-based scientific analysis platform used by tens of thousands of scientists …
org) is a web-based scientific analysis platform used by tens of thousands of scientists …
Jasmine and Iris: population-scale structural variant comparison and analysis
The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …
because SVs vary across individuals and are discovered through imprecise read …
Scalable Nanopore sequencing of human genomes provides a comprehensive view of haplotype-resolved variation and methylation
Long-read sequencing technologies substantially overcome the limitations of short-reads
but have not been considered as a feasible replacement for population-scale projects, being …
but have not been considered as a feasible replacement for population-scale projects, being …