Towards population-scale long-read sequencing

W De Coster, MH Weissensteiner… - Nature Reviews …, 2021 - nature.com
Long-read sequencing technologies have now reached a level of accuracy and yield that
allows their application to variant detection at a scale of tens to thousands of samples …

Variant calling and benchmarking in an era of complete human genome sequences

ND Olson, J Wagner, N Dwarshuis, KH Miga… - Nature Reviews …, 2023 - nature.com
Genetic variant calling from DNA sequencing has enabled understanding of germline
variation in hundreds of thousands of humans. Sequencing technologies and variant-calling …

Super-pangenome analyses highlight genomic diversity and structural variation across wild and cultivated tomato species

N Li, Q He, J Wang, B Wang, J Zhao, S Huang… - Nature Genetics, 2023 - nature.com
Effective utilization of wild relatives is key to overcoming challenges in genetic improvement
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …

Detection of mosaic and population-level structural variants with Sniffles2

M Smolka, LF Paulin, CM Grochowski, DW Horner… - Nature …, 2024 - nature.com
Calling structural variations (SVs) is technically challenging, but using long reads remains
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …

Graph pangenome captures missing heritability and empowers tomato breeding

Y Zhou, Z Zhang, Z Bao, H Li, Y Lyu, Y Zan, Y Wu… - Nature, 2022 - nature.com
Missing heritability in genome-wide association studies defines a major problem in genetic
analyses of complex biological traits,. The solution to this problem is to identify all causal …

Genome evolution and diversity of wild and cultivated potatoes

D Tang, Y Jia, J Zhang, H Li, L Cheng, P Wang, Z Bao… - Nature, 2022 - nature.com
Potato (Solanum tuberosum L.) is the world's most important non-cereal food crop, and the
vast majority of commercially grown cultivars are highly heterozygous tetraploids. Advances …

Pangenome analysis provides insight into the evolution of the orange subfamily and a key gene for citric acid accumulation in citrus fruits

Y Huang, J He, Y Xu, W Zheng, S Wang, P Chen… - Nature …, 2023 - nature.com
The orange subfamily (Aurantioideae) contains several Citrus species cultivated worldwide,
such as sweet orange and lemon. The origin of Citrus species has long been debated and …

New strategies to improve minimap2 alignment accuracy

H Li - Bioinformatics, 2021 - academic.oup.com
We present several recent improvements to minimap2, a versatile pairwise aligner for
nucleotide sequences. Now minimap2 v2. 22 can more accurately map long reads to highly …

De novo assembly, annotation, and comparative analysis of 26 diverse maize genomes

MB Hufford, AS Seetharam, MR Woodhouse… - Science, 2021 - science.org
We report de novo genome assemblies, transcriptomes, annotations, and methylomes for
the 26 inbreds that serve as the founders for the maize nested association map** …

A super pan-genomic landscape of rice

L Shang, X Li, H He, Q Yuan, Y Song, Z Wei, H Lin… - Cell Research, 2022 - nature.com
Pan-genomes from large natural populations can capture genetic diversity and reveal
genomic complexity. Using de novo long-read assembly, we generated a graph-based …