Variant calling and benchmarking in an era of complete human genome sequences
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …
eXclusionarY: 10 years later, where are the sex chromosomes in GWASs?
Summary 10 years ago, a detailed analysis showed that only 33% of genome-wide
association study (GWAS) results included the X chromosome. Multiple recommendations …
association study (GWAS) results included the X chromosome. Multiple recommendations …
Telomere-to-telomere assembly of diploid chromosomes with Verkko
Abstract The Telomere-to-Telomere consortium recently assembled the first truly complete
sequence of a human genome. To resolve the most complex repeats, this project relied on …
sequence of a human genome. To resolve the most complex repeats, this project relied on …
Assembly of 43 human Y chromosomes reveals extensive complexity and variation
The prevalence of highly repetitive sequences within the human Y chromosome has
prevented its complete assembly to date and led to its systematic omission from genomic …
prevented its complete assembly to date and led to its systematic omission from genomic …
The complete and fully-phased diploid genome of a male Han Chinese
Since the release of the complete human genome, the priority of human genomic study has
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
now been shifting towards closing gaps in ethnic diversity. Here, we present a fully phased …
Gapless assembly of complete human and plant chromosomes using only nanopore sequencing
The combination of ultra-long (UL) Oxford Nanopore Technologies (ONT) sequencing reads
with long, accurate Pacific Bioscience (PacBio) High Fidelity (HiFi) reads has enabled the …
with long, accurate Pacific Bioscience (PacBio) High Fidelity (HiFi) reads has enabled the …
Recombination between heterologous human acrocentric chromosomes
The short arms of the human acrocentric chromosomes 13, 14, 15, 21 and 22 (SAACs) share
large homologous regions, including ribosomal DNA repeats and extended segmental …
large homologous regions, including ribosomal DNA repeats and extended segmental …
The complete sequence and comparative analysis of ape sex chromosomes
Apes possess two sex chromosomes—the male-specific Y chromosome and the X
chromosome, which is present in both males and females. The Y chromosome is crucial for …
chromosome, which is present in both males and females. The Y chromosome is crucial for …
T2T-YAO: a telomere-to-telomere assembled diploid reference genome for Han Chinese
Y He, Y Chu, S Guo, J Hu, R Li, Y Zheng… - Genomics …, 2023 - academic.oup.com
Since its initial release in 2001, the human reference genome has undergone continuous
improvement in quality, and the recently released telomere-to-telomere (T2T) version—T2T …
improvement in quality, and the recently released telomere-to-telomere (T2T) version—T2T …
Scalable, accessible and reproducible reference genome assembly and evaluation in Galaxy
D Larivière, L Abueg, N Brajuka, C Gallardo-Alba… - Nature …, 2024 - nature.com
The Earth BioGenome Project aims to produce reference genomes for all~ 1.8 million known
eukaryotic species over the next decade 1–4. Achieving this goal will require the current …
eukaryotic species over the next decade 1–4. Achieving this goal will require the current …