Balanced Robertsonian translocation (ROB) is the most common chromosomal rearrangement in humans, with an estimated occurrence of 1 in 800 in newborn studies. Carriers are at increased risk of cancer ...

Humans possess human-specific traits[1][1],[2][2] such as spoken language and lineage-specific traits such as ape-specific taillessness[3][3],[4][4]. Previous efforts to identify the DNA sequences res...

HPRC Consent Document

Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and rep...

Working Groups

CRISPR activation of 1,836 human transcription factors recapitulates fibroblast transcriptional states observed in vivo and identifies regulators that can revert inflammatory states.

Population Sampling and Representation

Existing notions of pangenome coordinates rely on hard-to-compute multiple sequence alignments. On the other hand, pangenome-wide exact unique matches (multi-MUMs) can be computed efficiently, and represent conserved stretches of columns in the underlying MSA. We introduce Shredtools, which uses mul …

HPRC Consent Document

This is "D4. Building an Open Genomic Reference Resource - Consent and Participant Perspectives in the Human Pangenome Reference Consorti" by ELSIhub by CERA on Vimeo, the home for high quality videos...

Point Cloud Local Ancestry Inference (PCLAI). Contribute to AI-sandbox/pclai development by creating an account on GitHub.

Local ancestry inference (LAI) predicts a discrete ancestry label for each segment of an individual’s genome and has become integral to studying population history, genetic variation, and polygenic tr...

Please mark your calendars for the Telomere-to-Telomere "Face-to-Face" (T2T-F2F) two-day conference in Santa Cruz, CA Sept 3-4th. Great people, great science, great memories. The meeting will be host...

The authors resolve 63 structurally diverse haplotype structures for the 22q11.2 deletion syndrome region. Deletion risk differs depending on structure; individuals of African ancestry are enriched fo...

YouTube video by Human Pangenome Reference Consortium

Definitions

Population Sampling and Representation

Human-specific NOTCH2NL segmental duplications are implicated in brain cortical expansion. Analysis of 82 long-read assemblies from apes and humans shows independent duplications. Human-specific NOTCH...

YouTube video by Human Pangenome Reference Consortium

Accurately resolving the full spectrum of somatic alterations remains a major barrier in cancer genomics. Current short-read sequencing methods often prioritize SNVs and copy-number changes while over...

YouTube video by Human Pangenome Reference Consortium

Associate Members

YouTube video by Human Pangenome Reference Consortium

YouTube video by Human Pangenome Reference Consortium

The UAE-based Arab Pangenome Reference (UPR), constructed from 53 high-quality de novo genome assemblies from diverse Arab individuals, reveals 8.94 million population specific variants and 111.96 mil...

YouTube video by Human Pangenome Reference Consortium

This Perspective discusses the definitions of ‘broad’ that have been used in the context of sharing of human genomic data and proposes a clarified and reformed terminology for describing genomic data ...

YouTube video by Human Pangenome Reference Consortium

Human Pangenome Reference Consortium