Copy number variants (CNV) are associated with phenotypic variation in several species. However, properly detecting changes in copy numbers of sequences remains a difficult problem, especially in lower quality or lower coverage next-generation sequen...
IEEE/ACM transactions on computational biology and bioinformatics
Nov 4, 2019
The development of the next-generation sequencing (NGS) technologies has led to massive amounts of VCF (Variant Call Format) files, which have been the standard formats developed with 1000 Genomes Project. At the same time, with the widespread use of...
Computational and mathematical methods in medicine
Nov 2, 2019
As a large amount of genetic data are accumulated, an effective analytical method and a significant interpretation are required. Recently, various methods of machine learning have emerged to process genetic data. In addition, machine learning analysi...
Dysmorphology is the practice of defining the morphologic phenotype of syndromic disorders. Genomic sequencing has advanced our understanding of human variation and molecular dysmorphology has evolved in response to the science of relating embryologi...
Artificial intelligence (AI) is one of the most significant fields of development in the current digital age. Rapid advancements have raised speculation as to its potential benefits in a wide range of fields, with healthcare often at the forefront. H...
Omics : a journal of integrative biology
Oct 25, 2019
Pharmaceutical industry and the art and science of drug development are sorely in need of novel transformative technologies in the current age of digital health and artificial intelligence (AI). Often described as game-changing technologies, AI and m...
Single-cell RNA sequencing (scRNA-seq) offers new opportunities to study gene expression of tens of thousands of single cells simultaneously. We present DeepImpute, a deep neural network-based imputation algorithm that uses dropout layers and loss fu...
Animal : an international journal of animal bioscience
Oct 11, 2019
Single nucleotide polymorphisms (SNPs) able to describe population differences can be used for important applications in livestock, including breed assignment of individual animals, authentication of mono-breed products and parentage verification amo...
Big data problems are becoming more prevalent for laboratory scientists who look to make clinical impact. A large part of this is due to increased computing power, in parallel with new technologies for high quality data generation. Both new and old t...
BACKGROUND: Blood-based methods using cell-free DNA (cfDNA) are under development as an alternative to existing screening tests. However, early-stage detection of cancer using tumor-derived cfDNA has proven challenging because of the small proportion...
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