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Some of the mutations found by the researchers in Reykjavik have been linked to autism and schizophrenia in children.
The mutations found by Sanger sequencing were also found using the HaloPlex technique.
The allele frequencies of mutations found by pyrosequencing but not dideoxy sequencing ranged between 11% and 21% (Fig. 2A).
Deep sequencing detected all mutations found by population sequencing and identified additional resistance mutations in all but one individual, predominantly after virological failure to deep salvage therapy.
Deep sequencing detected all mutations found by population sequencing in all subjects, and found additional mutations in 6 out of 7 individuals.
We next tested whether conventional pyrosequencing [22] was able to confirm mutations found by dideoxy sequencing and if additional mutations could be found by this method in the patient cohort tested.
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We found that 7/11 (64%) mutated patients showed the same mutation found by mutational analysis without LCM in at least 1 area.
Somatic mutation found by MuTect and not present in the TCGA MAF file for the genes RNU5-F1 (A), SH3PXD2A (B), PSD3 (C), MYOC (D), CES3 (E), and GPR113 (F).
All but one H3-K27M mutation found by sequencing could also be accurately detected by IHC, including a novel mutation a gene encoding the H3.2 variant, HIST2H3C, not previously described (Fig. 1c, suppl. Fig S2b, c).
The EGFR mutations were most common in exon 19, comprising 61% (46/75) of all mutations found, followed by exon 21 missense mutations in 18% (14/75).
To reveal the alcohol tolerance mechanism of SY1043, we investigated the relationship between alcohol tolerance and four mutations found in SY1043 by genome resequencing analysis.
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