Deep learning in mining biological data
Recent technological advancements in data acquisition tools allowed life scientists to
acquire multimodal data from different biological application domains. Categorized in three …
acquire multimodal data from different biological application domains. Categorized in three …
Machine learning for integrating data in biology and medicine: Principles, practice, and opportunities
New technologies have enabled the investigation of biology and human health at an
unprecedented scale and in multiple dimensions. These dimensions include a myriad of …
unprecedented scale and in multiple dimensions. These dimensions include a myriad of …
A genome-wide mutational constraint map quantified from variation in 76,156 human genomes
The depletion of disruptive variation caused by purifying natural selection (constraint) has
been widely used to investigate protein-coding genes underlying human disorders, but …
been widely used to investigate protein-coding genes underlying human disorders, but …
The GTEx Consortium atlas of genetic regulatory effects across human tissues
GTEx Consortium - Science, 2020 - science.org
The Genotype-Tissue Expression (GTEx) project was established to characterize genetic
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
effects on the transcriptome across human tissues and to link these regulatory mechanisms …
The impact of sex on gene expression across human tissues
M Oliva, M Muñoz-Aguirre, S Kim-Hellmuth, V Wucher… - Science, 2020 - science.org
INTRODUCTION Many complex human phenotypes, including diseases, exhibit sex-
differentiated characteristics. These sex differences have been variously attributed to …
differentiated characteristics. These sex differences have been variously attributed to …
CADD: predicting the deleteriousness of variants throughout the human genome
Abstract Combined Annotation-Dependent Depletion (CADD) is a widely used measure of
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …
variant deleteriousness that can effectively prioritize causal variants in genetic analyses …
dbNSFP v4: a comprehensive database of transcript-specific functional predictions and annotations for human nonsynonymous and splice-site SNVs
Whole exome sequencing has been increasingly used in human disease studies.
Prioritization based on appropriate functional annotations has been used as an …
Prioritization based on appropriate functional annotations has been used as an …
Jasmine and Iris: population-scale structural variant comparison and analysis
The availability of long reads is revolutionizing studies of structural variants (SVs). However,
because SVs vary across individuals and are discovered through imprecise read …
because SVs vary across individuals and are discovered through imprecise read …
Analysis of 100,000 human cancer genomes reveals the landscape of tumor mutational burden
Background High tumor mutational burden (TMB) is an emerging biomarker of sensitivity to
immune checkpoint inhibitors and has been shown to be more significantly associated with …
immune checkpoint inhibitors and has been shown to be more significantly associated with …
Applications of deep learning and reinforcement learning to biological data
Rapid advances in hardware-based technologies during the past decades have opened up
new possibilities for life scientists to gather multimodal data in various application domains …
new possibilities for life scientists to gather multimodal data in various application domains …