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Mutation analysis using λ phage-based cII and lacI/lacZ-assays is limited to non-transcribed sequences and detection of base mutations and small insertions/deletions.
When studying paternal mutations, cII and lacI/lacZ are suitable targets since paternal mutations most often are base mutations and small insertions/deletions. Furthermore these genes are non-transcribed and during spermatogenesis transcription ceases for a number of genes.
We conclude that a combination of techniques capable of detecting both single base mutations and small insertions / deletions and large genomic rearrangements is necessary in order to accurately analyze the BRCA1 gene in patients at high risk of carrying a germline mutation as determined by their family history.
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ARMS, also known as allele-specific polymerase chain reaction (ASPCR), is a reliable method for detecting single base mutations or small deletions which is based on the use of sequence-specific PCR primers [ 17].
Allelic discrimination has previously been used to genotype frame shift and point mutations, and small insertions or deletions six base pairs in length, but not large deletions.
APRT gene alterations include missense, frameshift, and nonsense mutations and small deletions/insertions ranging in size from 1 to 8 base pairs.
Because 85% of all known mutations are located in the coding regions and the intron/exon junctions, capture-based target gene enrichment followed by MPS analysis is a cost-effective way to identify point mutations and small indels <20 bp.
The vast majority of mutations described to date are point mutations and small insertions and deletions.
This mutator phenotype increases the spontaneous rates of base substitution and small insertion/deletion mutations approximately 100 1000-fold (Bhattacharyya et al, 100 1000-foldshleman et al, 1995, 1996) and provides a plausiBhattacharyyaon for thethigh rale of carcinogenesis observed.
Although some cancer genomes probably contain over a million mutations at sufficient frequency to be identified by standard NGS methods, most have tens of thousands of base substitution and small indel mutations.
Each mini-IS element differed from others in the same group by some 10 20% in sequence, due to base substitution and small insertion/deletion mutation differences (Fig. S10).
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