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Article
Using deep learning to annotate the protein universe
Understanding the relationship between amino acid sequence and protein function is a long-standing challenge with far-reaching scientific and translational implications. State-of-the-art alignment-based techni...
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Article
Open AccessRNA profiles reveal signatures of future health and disease in pregnancy
Maternal morbidity and mortality continue to rise, and pre-eclampsia is a major driver of this burden1. Yet the ability to assess underlying pathophysiology before clinical presentation to enable identification o...
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Article
Accurate circular consensus long-read sequencing improves variant detection and assembly of a human genome
The DNA sequencing technologies in use today produce either highly accurate short reads or less-accurate long reads. We report the optimization of circular consensus sequencing (CCS) to improve the accuracy of...
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Article
A universal SNP and small-indel variant caller using deep neural networks
DeepVariant uses convolutional neural networks to improve the accuracy of variant calling.
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Article
Exome sequencing identifies rare LDLR and APOA5 alleles conferring risk for myocardial infarction
Exome sequence analysis of nearly 10,000 people was carried out to identify alleles associated with early-onset myocardial infarction; mutations in low-density lipoprotein receptor (LDLR) or apolipoprotein A-V (A...
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Article
Open AccessPacific biosciences sequencing technology for genoty** and variation discovery in human data
Pacific Biosciences technology provides a fundamentally new data type that provides the potential to overcome some limitations of current next generation sequencing platforms by providing significantly longer ...
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Article
A framework for variation discovery and genoty** using next-generation DNA sequencing data
Mark DePristo and colleagues report an analytical framework to discover and genotype variation using whole exome and genome resequencing data from next-generation sequencing technologies. They apply these meth...
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Article
Open AccessNext-generation sequencing for HLA ty** of class I loci
Comprehensive sequence characterization across the MHC is important for successful organ transplantation and genetic association studies. To this end, we have developed an automated sample preparation, molecul...
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Article
Is one solution good enough?
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Article
Missense meanderings in sequence space: a biophysical view of protein evolution
In addition to functional properties, proteins have a wide range of biophysical characteristics, such as stability, propensity for aggregation and rate of degr...
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Article
Simultaneous determination of protein structure and dynamics
We present a protocol for the experimental determination of ensembles of protein conformations that represent simultaneously the native structure and its associated dynamics. The procedure combines the strengt...
