Keyword

human genome

3 papers tagged “human genome”

BiologyNature · May 2023 Open access

A draft human pangenome reference

Wen-Wei Liao, Mobin Asri and Jana Ebler

The Human Pangenome Reference Consortium presents a first draft human pangenome built from 47 phased, diploid genome assemblies of genetically diverse individuals. The assemblies cover more than 99% of the expected sequence per genome at over 99% base-level and structural accuracy, and are combined into a graph-based reference. Relative to GRCh38, the pangenome adds about 119 million base pairs of euchromatic polymorphic sequence and 1,115 gene duplications, improving representation of variation at structurally complex loci.

pangenome human genome structural variation genome assembly

BiologyScience · Apr 2022 Open access

The complete sequence of a human genome

Sergey Nurk, Sergey Koren and Adam M. Phillippy

The Telomere-to-Telomere (T2T) Consortium reports T2T-CHM13, the first essentially gapless assembly of a human genome (all chromosomes except Y), totaling about 3.055 billion base pairs. The assembly resolves previously unfinished heterochromatic and repetitive regions, including centromeric satellite arrays, segmental duplications, and the short arms of the acrocentric chromosomes. It adds nearly 200 million base pairs of new sequence and corrects errors in prior reference assemblies.

human genome t2t genome assembly telomere-to-telomere

BiologyNature · Feb 2001

Initial sequencing and analysis of the human genome

Eric S. Lander, Lauren M. Linton, Bruce Birren, Chad Nusbaum and Michael C. Zody

This paper reported the results of the publicly funded Human Genome Project, presenting and making freely available a draft sequence covering the great majority of the human genome along with an initial analysis. The consortium described the broad genomic landscape—including gene content, repeat elements, GC content, and recombination rates—and estimated a surprisingly low number of protein-coding genes, on the order of roughly 30,000–40,000. The work provided a foundational reference for human biology, medicine, and evolutionary studies.

human genome genomics dna sequencing human genome project