The human reference genome has formed the backbone of human genomics since its initial draft release more than 20 years ago2. The primary sequences are a mosaic representation of individual haplotypes containing one representative scaffold sequence for each chromosome. There are 210 Mb of gap o...
“打铁还需家什妙”——包振民院士团队发表比较基因组分析的新工具PanSyn 随着高通量测序技术的飞速发展,基于不同“生命王国”——Kingdoms——不同谱系的大型、系统基因组研究计划,比如EBP(The Earth BioGenome Project )、 VGP(The Vert...
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 more than 20 people, with a single individual comprising most of the sequen
Over the past two decades, the reference human genome sequence has served as the foundation for genetic and biomedical research and applications; however, there is a broad consensus that no single reference sequence can represent the genomic diversity of global populations. On one hand, high-quality...
Eimear Kenny, PhD, had just completed undergrad and was working in her first computational genomics job more than 20 years ago when scientists announced the first (nearly) complete sequencing of the human genome—what was considered at the time to be the fundamental blueprint for all humans. Th...
Human Pangenome Reference Consortium - HG002 Data Freeze (v1.0) - human-pangenomics/HG002_Data_Freeze_v1.0
git clone --recursive https://github.com/pangenome/pggb.gitcdpggb you can run the container using thehuman leukocyte antigen (HLA) dataprovided in this repo: docker run -it -v${PWD}/data/:/data ghcr.io/pangenome/pggb:latest /bin/bash -c"pggb -i /data/HLA/DRB1-3123.fa.gz -p ...
This work was supported in part by the National Human Genome Research Institute and the National Institutes of Health (NIH). B.P. was partly supported by NIH grant nos. R01HG010485, U24HG010262, U24HG011853, OT3HL142481, U01HG010961 and OT2OD033761. The funders had no role in study...
The development of efficient and inexpensive genome sequencing methods has revolutionized the study of human bacterial pathogens and improved vaccine design. Unfortunately, the sequence of a single genome does not reflect how genetic variability drives pathogenesis within a bacterial species and also limits...
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