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We introduce Non-Euclidean-MDS (Neuc-MDS), an extension of classical Multidimensional Scaling (MDS) that accommodates non-Euclidean and non-metric inputs. The main idea is to generalize the standard inner product to symmetric bilinear forms to utilize the negative eigenvalues of dissimilarity Gram matrices. Neuc-MDS efficiently optimizes the choice of (both positive and negative) eigenvalues of the dissimilarity Gram matrix to reduce STRESS, the sum of squared pairwise error. We provide an in-depth error analysis and proofs of the optimality in minimizing lower bounds of STRESS. We demonstrate Neuc-MDS’s ability to address limitations of classical MDS raised by prior research, and test it on various synthetic and real-world datasets in comparison with both linear and non-linear dimension reduction methods. 

Abstract The high sequencing error rate has impeded the application of long noisy reads for diploid genome assembly. Most existing assemblers failed to generate high-quality phased assemblies using long noisy reads. Here, we present PECAT, aPhasedErrorCorrection andAssemblyTool, for reconstructing diploid genomes from long noisy reads. We design a haplotype-aware error correction method that can retain heterozygote alleles while correcting sequencing errors. We combine a corrected read SNP caller and a raw read SNP caller to further improve the identification of inconsistent overlaps in the string graph. We use a grouping method to assign reads to different haplotype groups. PECAT efficiently assembles diploid genomes using Nanopore R9, PacBio CLR or Nanopore R10 reads only. PECAT generates more contiguous haplotype-specific contigs compared to other assemblers. Especially, PECAT achieves nearly haplotype-resolved assembly onB. taurus(Bison×Simmental) using Nanopore R9 reads and phase block NG50 with 59.4/58.0 Mb for HG002 using Nanopore R10 reads. 

Abstract Sweet orange originated from the introgressive hybridizations of pummelo and mandarin resulting in a highly heterozygous genome. How alleles from the two species cooperate in shaping sweet orange phenotypes under distinct circumstances is unknown. Here, we assembled a chromosome-level phased diploid Valencia sweet orange (DVS) genome with over 99.999% base accuracy and 99.2% gene annotation BUSCO completeness. DVS enables allele-level studies for sweet orange and other hybrids between pummelo and mandarin. We first configured an allele-aware transcriptomic profiling pipeline and applied it to 740 sweet orange transcriptomes. On average, 32.5% of genes have a significantly biased allelic expression in the transcriptomes. Different cultivars, transgenic lineages, tissues, development stages, and disease status all impacted allelic expressions and resulted in diversified allelic expression patterns in sweet orange, but particularly citrus Huanglongbing (HLB) shifted the allelic expression of hundreds of genes in leaves and calyx abscission zones. In addition, we detected allelic structural mutations in an HLB-tolerant mutant (T19) and a more sensitive mutant (T78) through long-read sequencing. The irradiation-induced structural mutations mostly involved double-strand breaks, while most spontaneous structural mutations were transposon insertions. In the mutants, most genes with significant allelic expression ratio alterations (≥1.5-fold) were directly affected by those structural mutations. In T19, alleles located at a translocated segment terminal were upregulated, including CsDnaJ, CsHSP17.4B, and CsCEBPZ. Their upregulation is inferred to keep phloem protein homeostasis under the stress from HLB and enable subsequent stress responses observed in T19. DVS will advance allelic level studies in citrus. 

Abstract Fractionally doped perovskites oxides (FDPOs) have demonstrated ubiquitous applications such as energy conversion, storage and harvesting, catalysis, sensor, superconductor, ferroelectric, piezoelectric, magnetic, and luminescence. Hence, an accurate, cost-effective, and easy-to-use methodology to discover new compositions is much needed. Here, we developed a function-confined machine learning methodology to discover new FDPOs with high prediction accuracy from limited experimental data. By focusing on a specific application, namely solar thermochemical hydrogen production, we collected 632 training data and defined 21 desirable features. Our gradient boosting classifier model achieved a high prediction accuracy of 95.4% and a high F1 score of 0.921. Furthermore, when verified on additional 36 experimental data from existing literature, the model showed a prediction accuracy of 94.4%. With the help of this machine learning approach, we identified and synthesized 11 new FDPO compositions, 7 of which are relevant for solar thermochemical hydrogen production. We believe this confined machine learning methodology can be used to discover, from limited data, FDPOs with other specific application purposes. 

Abstract Motivation Oxford Nanopore sequencing has great potential and advantages in population-scale studies. Due to the cost of sequencing, the depth of whole-genome sequencing for per individual sample must be small. However, the existing single nucleotide polymorphism (SNP) callers are aimed at high-coverage Nanopore sequencing reads. Detecting the SNP variants on low-coverage Nanopore sequencing data is still a challenging problem. Results We developed a novel deep learning-based SNP calling method, NanoSNP, to identify the SNP sites (excluding short indels) based on low-coverage Nanopore sequencing reads. In this method, we design a multi-step, multi-scale and haplotype-aware SNP detection pipeline. First, the pileup model in NanoSNP utilizes the naive pileup feature to predict a subset of SNP sites with a Bi-long short-term memory (LSTM) network. These SNP sites are phased and used to divide the low-coverage Nanopore reads into different haplotypes. Finally, the long-range haplotype feature and short-range pileup feature are extracted from each haplotype. The haplotype model combines two features and predicts the genotype for the candidate site using a Bi-LSTM network. To evaluate the performance of NanoSNP, we compared NanoSNP with Clair, Clair3, Pepper-DeepVariant and NanoCaller on the low-coverage (∼16×) Nanopore sequencing reads. We also performed cross-genome testing on six human genomes HG002–HG007, respectively. Comprehensive experiments demonstrate that NanoSNP outperforms Clair, Pepper-DeepVariant and NanoCaller in identifying SNPs on low-coverage Nanopore sequencing data, including the difficult-to-map regions and major histocompatibility complex regions in the human genome. NanoSNP is comparable to Clair3 when the coverage exceeds 16×. Availability and implementation https://github.com/huangnengCSU/NanoSNP.git. Supplementary information Supplementary data are available at Bioinformatics online.