To overcome reference bias, a transition to a pangenomic reference has been envisioned11,12. Pangenomic methods have rapidly progressed over the past few years13,14,15such that it is now practical to propose that common genomic analyses use a pangenome. Here we sequence and assemble a set of...
Since the early days of the genome era, the scientific community has relied on a single ‘reference’ genome for each species, which is used as the basis for a wide range of genetic analyses, including studies of variation within and across species. As s
Human Pangenome Reference Consortium - HG002 Data Freeze (v1.0) - human-pangenomics/HG002_Data_Freeze_v1.0
led by the international Human Pangenome Reference Consortium. The reference currently includes genomes of 47 people, aiming to reach 350 by 2024. This endeavor seeks to represent human genetic diversity more accurately, aiding disease diagnosis and treatment, and minimizing health disparities...
Here the Human Pangenome Reference Consortium presents a first draft of the human pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of genetically diverse individuals1. These assemblies cover more than 99% of the exp
Human Pangenome Reference Consortium - HG002 Data Freeze (v1.0) - tongwang666/HG002_Data_Freeze_v1.0
Basile G, Kahraman S, Dirice E, Pan H, Dreyfuss JM, Kulkarni RN. Using single-nucleus RNA-sequencing to interrogate transcriptomic profiles of archived human pancreatic islets. Genome Med. 2021;13(1):128. Article CAS PubMed PubMed Central Google Scholar Lee S, Zhang AY, Su S, Ng AP,...
Human Geneis a companion title toGeneand a member of theGene Family.Human Genepublishesmeta-analysis, genetics, genome projects, andregulation, expression, function, and evolution of genesthat are relevant tohuman genetics. Examples include but are not limited to ...
The Human Pangenome Reference Consortium aims to create a more sophisticated and complete human reference genome with a graph-based, telomere-to-telomere representation of global genomic diversity. Here we leverage innovations in technology, study design and global partnerships with the goal of ...
A. et al. Evaluation of GRCh38 and de novo haploid genome assemblies demonstrates the enduring quality of the reference assembly. Genome Res. 27, 849–864 (2017). CAS PubMed PubMed Central Google Scholar Li, R. et al. Building the sequence map of the human pan-genome. Nat. Biotechnol...