2021
DOI: 10.1002/bmb.21561
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Genome sequencing guide: An introductory toolbox to whole‐genome analysis methods

Abstract: To fully appreciate genetics, one must understand the link between genotype (DNA sequence) and phenotype (observable characteristics). Advances in high-throughput genomic sequencing technologies and applications, so-called "-omics," have made genetic sequencing readily available across fields in biology from applications in non-traditional study organisms to precision medicine. Thus, understanding these tools is critical for any biologist, especially those early in their career. This comprehensive review discu… Show more

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Cited by 13 publications
(4 citation statements)
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“…After comparing the established sequences of obtained reads with sequences from genomic libraries (Microseq library (AB); Lab-specific custom library; Genbank BLAST (NCBI), and others), it is possible to determine the sequence and localization of nucleotides in the genome and reconstruct the entire genome sequence. This principle forms the basis of whole-genome sequencing [43].…”
Section: Resultsmentioning
confidence: 99%
“…After comparing the established sequences of obtained reads with sequences from genomic libraries (Microseq library (AB); Lab-specific custom library; Genbank BLAST (NCBI), and others), it is possible to determine the sequence and localization of nucleotides in the genome and reconstruct the entire genome sequence. This principle forms the basis of whole-genome sequencing [43].…”
Section: Resultsmentioning
confidence: 99%
“…Subsequently, an explosion of applications resulted in the creation of a new domain of biology, bioinformatics, with a slight change in the initial meaning of the word, now often restricted to genome‐based studies (Hogeweg, 2011). Yet, while this restriction is commonplace, the advent of genomics, with its related ‘omics’ studies (Yadav, 2007), has considerably expanded the domain, with only fuzzy boundaries with recently fashionable domains such as AI and image analysis (Burian et al ., 2021).…”
Section: Synthetic Biology In Silicomentioning
confidence: 99%
“…Schinzel–Giedion syndrome is a highly challenging disease with severe complications, including intellectual disability, malignant tumors, and congenital anomalies. Ultimately, using genetic sequencing [ 9 , 10 ], Schinzel–Giedion syndrome can be rapidly diagnosed, which significantly shortens the time required for treatment and significantly improves patient prognoses.…”
Section: Introductionmentioning
confidence: 99%