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Published in 2018 at "Bioinformatics"
DOI: 10.1093/bioinformatics/bty601
Abstract: Motivation Conserved nonācoding elements (CNEs) represent an enigmatic class of genomic elements which, despite being extremely conserved across evolution, do not encode for proteins. Their functions are still largely unknown. Thus, there exists a need…
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Keywords:
conserved non;
finding conserved;
cnefinder finding;
non coding ... See more keywords
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Published in 2017 at "Nucleic Acids Research"
DOI: 10.1093/nar/gkx1074
Abstract: Abstract Comparative genomics has revealed a class of non-protein-coding genomic sequences that display an extraordinary degree of conservation between two or more organisms, regularly exceeding that found within protein-coding exons. These elements, collectively referred to…
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Keywords:
conserved non;
gene regulation;
developmental gene;
elements developmental ... See more keywords
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Published in 2021 at "International Journal of Molecular Sciences"
DOI: 10.3390/ijms22042060
Abstract: The advent of long-read sequencing offers a new assessment method of detecting genomic structural variation (SV) in numerous rare genetic diseases. For autism spectrum disorders (ASD) cases where pathogenic variants fail to be found in…
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Keywords:
long read;
read sequencing;
elements genome;
impacting complex ... See more keywords