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Open AccessJournal ArticleDOI

The real cost of sequencing: scaling computation to keep pace with data generation.

TLDR
As the cost of sequencing continues to decrease and the amount of sequence data generated grows, new paradigms for data storage and analysis are increasingly important.
Abstract
As the cost of sequencing continues to decrease and the amount of sequence data generated grows, new paradigms for data storage and analysis are increasingly important. The relative scaling behavior of these evolving technologies will impact genomics research moving forward.

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Opportunities and obstacles for deep learning in biology and medicine.

TL;DR: It is found that deep learning has yet to revolutionize biomedicine or definitively resolve any of the most pressing challenges in the field, but promising advances have been made on the prior state of the art.
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Benefits and limitations of genome-wide association studies.

TL;DR: This Review comprehensively assess the benefits and limitations of GWAS in human populations and discusses the relevance of performing more GWAS, with a focus on the cardiometabolic field.
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MAFFT-DASH: integrated protein sequence and structural alignment.

TL;DR: MAFFT-DASH showed 10–20% improvement over standard MAFFT for MSA problems with weak similarity, in terms of Sum-of-Pairs (SP), a measure of how well a program succeeds at aligning input sequences in comparison to a reference alignment.
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A novel community driven software for functional enrichment analysis of extracellular vesicles data

Mohashin Pathan, +46 more
TL;DR: A novel community-driven approach to build a comprehensive functional enrichment analysis tool using the existing FunRich tool as a template and inviting researchers to request additional features and/or changes was able to implement 90% of the requested features.
Journal ArticleDOI

Recent Advances in SELEX Technology and Aptamer Applications in Biomedicine

TL;DR: The limitations and notable advances of aptamer selection are presented, and the different methods used in the kinetic characterization of aptamers are compared, to comprehensively review the current shortage and achievement ofaptamer-related technology.
References
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Journal ArticleDOI

Basic Local Alignment Search Tool

TL;DR: A new approach to rapid sequence comparison, basic local alignment search tool (BLAST), directly approximates alignments that optimize a measure of local similarity, the maximal segment pair (MSP) score.
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DNA sequencing with chain-terminating inhibitors

TL;DR: A new method for determining nucleotide sequences in DNA is described, which makes use of the 2',3'-dideoxy and arabinon nucleoside analogues of the normal deoxynucleoside triphosphates, which act as specific chain-terminating inhibitors of DNA polymerase.
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Fast and accurate short read alignment with Burrows–Wheeler transform

TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
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STAR: ultrafast universal RNA-seq aligner

TL;DR: The Spliced Transcripts Alignment to a Reference (STAR) software based on a previously undescribed RNA-seq alignment algorithm that uses sequential maximum mappable seed search in uncompressed suffix arrays followed by seed clustering and stitching procedure outperforms other aligners by a factor of >50 in mapping speed.
Journal ArticleDOI

Ultrafast and memory-efficient alignment of short DNA sequences to the human genome

TL;DR: Bowtie extends previous Burrows-Wheeler techniques with a novel quality-aware backtracking algorithm that permits mismatches and can be used simultaneously to achieve even greater alignment speeds.
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