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Microsatellite loci are genomic features well suited for the study of mutational processes.
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In most cases, reporting this jumbled spectrum is uninformative for the diversity of mutational processes operative in a single cancer type or in a single cancer sample [ 20 ].
These studies demonstrated the value of whole genome sequencing for evaluating signatures of mutational processes by providing greater resolution and mechanistic insight into mutational signatures due to known carcinogens, for example through the identification of a lower prevalence of mutations over the footprints of genes.
These results reveal the substantial effects of mutational processes on LD at STRPs and provide important measures of the potential of STRPs for association mapping of disease genes.
Further, we provide a systematic computational framework that can be used for accurately deciphering signatures of mutational processes from mutational catalogs of cancer genomes.
In the first study to use mutational context to mathematically extract signatures of mutational processes, Nik-Zainal and colleagues [ 47] catalogued somatically acquired mutational signatures in 21 deep-sequenced breast cancers (Table 1).
In this study, we use NMF to solve our BSS cancer genomics problem and decipher signatures of mutational processes from mutational catalogs of cancer genomes.
Analyzing the DNA sequences of more than 12,000 cancer patients revealed signatures of mutational processes.
Gaining empirical evidence of mutational processes affecting mutational diversity within natural populations is a demanding task.
Signatures of mutational processes with different exposures were randomly generated and used to simulate mutational catalogs of cancer genomes.
HGMD was originally established in 1996 for the scientific study of mutational mechanisms in human genes.
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