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arXiv research

A locally-built, LLM-digested index of recent arXiv papers in quant finance, geometry/topology, and statistical ML — keyword search served straight from SQLite on this machine.

168,982 papers · 148 categories

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48 results for Reference genome

Semi-supervised deep learning detects problematic reads for genome assembly.

problem De novo genome assembly is hindered by specific types of reads.
method Analysis of coverage graphs converted to 1D-signals using semi-supervised deep learning models.
result Semi-supervised deep learning models can detect problematic reads with minimal labeled data.

In this work we propose a method to compute continuous embeddings for kmers from raw RNA-seq data, without the need for alignment to a reference genome. The approach uses an RNN to transform kmers of the RNA-seq reads into a 2 dimensional representation that is used to predict abundance of each kmer. We report that our…

2018-10-08abs ↗pdf ↗

Paper proposes dp-VAE for preserving spatial context in gene expression data.

problem Inaccessibility of spatial context in single-cell gene expression data.
method Generic representation learning and transfer learning framework with a distance-preserving regularizer.
result dp-VAE effectively reconstructs and imputes spatial context from gene expression data.

We characterize and study variable importance (VIMP) and pairwise variable associations in binary regression trees. A key component involves the node mean squared error for a quantity we refer to as a maximal subtree. The theory naturally extends from single trees to ensembles of trees and applies to methods like rando…

2007-11-15abs ↗pdf ↗

Advances of modern sensing and sequencing technologies generate a deluge of high dimensional space-temporal physiological and next-generation sequencing (NGS) data. Physiological traits are observed either as continuous random functions, or on a dense grid and referred to as function-valued traits. Both physiological a…

2014-10-27abs ↗pdf ↗

SVM and N-best algorithm classify microbial marker clades from genome sequences.

problem Classifying microbial clades from genome sequences, especially new species.
method Support vector machine (SVM) with N-best algorithm, time series feature extraction, random fragment generation, k-mer size selection.
result Recognition accuracy rates above 28% in top-1 candidate, above 91% in top-10 candidate.

Elastic co-clustering improves clustering of single-cell genomic data.

problem Improving clustering performance of single-cell genomic datasets.
method Elastic coupled co-clustering in an unsupervised transfer learning framework.
result Our algorithm significantly improves clustering performance over traditional methods.

With different genomes available, unsupervised learning algorithms are essential in learning genome-wide biological insights. Especially, the functional characterization of different genomes is essential for us to understand lives. In this book chapter, we review the state-of-the-art unsupervised learning algorithms fo…

2015-08-03abs ↗pdf ↗

Copula-based fusion improves breast cancer risk stratification.

problem Combining clinical and genomic risk scores using simple rules fails to capture their joint relationship.
method Used copulas to model the joint relationship between clinical and genomic risk scores.
result Copula-based fusion improves risk stratification, identifying subgroups with the worst prognosis.

In this paper we propose network methodology to infer prognostic cancer biomarkers based on the epigenetic pattern DNA methylation. Epigenetic processes such as DNA methylation reflect environmental risk factors, and are increasingly recognised for their fundamental role in diseases such as cancer. DNA methylation is a…

2015-06-17abs ↗pdf ↗

Paper proposes scalable method for analyzing multi-omic data.

problem Integrating high-dimensional multi-omic data for cancer subtyping.
method Mixed graphical model approach using Birth-Death MCMC algorithm.
result Our method outperforms LASSO and standard BDMCMC in computational efficiency and model selection accuracy.

LEARNER improves low-rank matrix estimation using source population data.

problem Improving low-rank matrix estimation in target populations with diverse data sources.
method LEARNER uses similarity in latent spaces between source and target populations to enhance estimation.
result LEARNER often outperforms benchmark methods, especially with higher signal-to-noise ratios in the source population.

Understanding functional organization of genetic information is a major challenge in modern biology. Following the initial publication of the human genome sequence in 2001, advances in high-throughput measurement technologies and efficient sharing of research material through community databases have opened up new view…

2011-02-27abs ↗pdf ↗

fiBAG integrates multiplatform genomic data to identify disease markers.

problem Understanding complex mechanisms underlying human diseases from multiplatform genomic data.
method fiBAG uses Gaussian process models and Bayes factors to identify functional evidence and guide variable selection.
result fiBAG improves detection of disease-related markers compared to non-integrative methods.

We consider the task of detecting regulatory elements in the human genome directly from raw DNA. Past work has focused on small snippets of DNA, making it difficult to model long-distance dependencies that arise from DNA's 3-dimensional conformation. In order to study long-distance dependencies, we develop and release …

2017-10-03abs ↗pdf ↗

Optimization approach for efficient sampling in optical mapping for structural variant detection.

problem Efficient sampling strategy for structural variant detection using optical mapping.
method Developed an optimization approach using a hyper-geometric distribution and probabilistic concentration inequalities.
result Optimal sampling strategy requires sampling most chromosomal fragments to detect variants at high confidence with little biological material.

PKB framework boosts genomic data analysis by integrating pathway knowledge.

problem Boosting discovery power and connecting new findings with biological mechanisms in genomic data.
method Pathway-based Kernel Boosting (PKB) framework integrating clinical and pathway information for prediction of various outcomes.
result PKB substantially outperforms other methods in predicting drug response and cancer survival.

An approach for learning ancestral causal relationships in high dimensions, validated on human genome-wide data.

problem Learning ancestral causal relationships in high-dimensional biological data.
method Supervised learning approach with discrete indicators treated as labels, scalable to large problems.
result The approach is highly effective and scalable to the human genome-wide setting, robust to perturbations of input information.

Machine learning accurately diagnoses cancer from whole genome sequencing data.

problem Accurate cancer diagnosis at all stages.
method Novel MLAC (Machine Learning Against Cancer) method using next-gen RNA sequencing.
result Perfect precision, sensitivity, and specificity achieved for most tumor types.

Proposes a copula-based model for multi-view clustering with directional dependency.

problem Challenges in integrating multi-source datasets with directional dependency.
method Copula-based multi-view clustering model accounting for directional dependence.
result Ignoring directional dependence negatively impacts clustering performance.

Recent advances in high-throughput cDNA sequencing (RNA-Seq) technology have revolutionized transcriptome studies. A major motivation for RNA-Seq is to map the structure of expressed transcripts at nucleotide resolution. With accurate computational tools for transcript reconstruction, this technology may also become us…

2013-09-20abs ↗pdf ↗