The Diversity of REcent and Ancient huMan (DREAM): a new microarray for genetic anthropology and genealogy, forensics, and personalized medicine [PDF]
, 2017 The human population displays wide variety in demographic history, ancestry, content of DNA derived from hominins or ancient populations, adaptation, traits, copy number variation (CNVs), drug response, and more. These polymorphisms are of broad interest
Ainan I J Anderson +17 more
core +1 more source
The diagnostic trajectory of infants and children with clinical features of genetic disease
npj Genomic Medicine, 2021 We characterized US pediatric patients with clinical indicators of genetic diseases, focusing on the burden of disease, utilization of genetic testing, and cost of care.
Brock E. Schroeder +6 more
doaj +1 more source
Cell Genomics, 2023 Summary: Current standards in clinical genetics recognize the need to establish the validity of gene-disease relationships as a first step in the interpretation of sequence variants.
Amanda R. Clause +25 more
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Terminal restriction fragment length polymorphism is an “old school” reliable technique for swift microbial community screening in anaerobic digestion [PDF]
, 2018 The microbial community in anaerobic digestion has been analysed through microbial fingerprinting techniques, such as terminal restriction fragment length polymorphism (TRFLP), for decades.
De Vrieze, Jo +3 more
core +6 more sources
A High-Throughput Method for Illumina RNA-Seq Library Preparation. [PDF]
, 2012 With the introduction of cost effective, rapid, and superior quality next generation sequencing techniques, gene expression analysis has become viable for labs conducting small projects as well as large-scale gene expression analysis experiments. However,
Daniel H Chitwood +8 more
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An improved protocol for small RNA library construction using High Definition adapters [PDF]
, 2015 Next generation sequencing of small RNA (sRNA) libraries is widely used for studying sRNAs in various biological systems. However, cDNA libraries of sRNAs are biased for molecules that are ligated to adapters more or less efficiently than other molecules.
Aravin +28 more
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A Hybrid Sequencing Approach Completes the Genome Sequence of Thermoanaerobacter ethanolicus JW 200 [PDF]
, 2019 Thermoanaerobacter ethanolicus JW 200 has been identified as a potential sustainable biofuel producer due to its ability to readily ferment carbohydrates to ethanol. A hybrid sequencing approach, combining Oxford Nanopore and Illumina DNA sequence reads,
Ayine, Monica L. +9 more
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Simulating Illumina metagenomic data with InSilicoSeq [PDF]
Bioinformatics, 2018 Abstract Motivation The accurate in silico simulation of metagenomic datasets is of great importance for benchmarking bioinformatics tools as well as for experimental design. Users are dependant on large-scale simulation to not only design experiments and new projects but also for accurate estimation ...
Gourlé, Hadrien +3 more
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Open-source genomic analysis of Shiga-toxin–producing E. coli O104:H4 [PDF]
, 2011 An outbreak caused by Shiga-toxin–producing Escherichia coli O104:H4 occurred in Germany in May and June of 2011, with more than 3000 persons infected. Here, we report a cluster of cases associated with a single family and describe an open-source genomic
Antoine Danchin +39 more
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Nature Communications, 2022 Rapid diagnosis and implementation of treatments is crucial in many genetic conditions. Here the authors describe Genome-to-Treatment, a virtual disease management system that can achieve a rapid diagnosis by expedited whole genome sequencing in 13.5 ...
Mallory J. Owen +64 more
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