Towards population-scale long-read sequencing
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 …
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
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 …
Super-pangenome analyses highlight genomic diversity and structural variation across wild and cultivated tomato species
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 …
of cultivated tomato, which has a narrow genetic basis; however, current efforts to decipher …
Detection of mosaic and population-level structural variants with Sniffles2
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 …
the most accurate way to identify complex genomic alterations. Here we present Sniffles2 …
Graph pangenome captures missing heritability and empowers tomato breeding
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 …
analyses of complex biological traits,. The solution to this problem is to identify all causal …
Genome evolution and diversity of wild and cultivated potatoes
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 …
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 …
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 …
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
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** …
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 …
genomic complexity. Using de novo long-read assembly, we generated a graph-based …