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This column contains only information about validation using the Complete Genomics whole genome sequence (WGS) data.
The SNPs were called using the Complete Genomics Analysis tool which was especially designed to analyze data from Complete Genomics.
Paired-end sequencing was performed using the Complete Genomics service (CG, Mountain View, California, USA) as described in Drmanac et al. (2010) or by Illumina HiSeq2000.
The Random Forest model was developed by calculating and collecting data for 31 covariates from the union set at loci in samples that overlapped with calls made using the Complete Genomics (CGI) analysis pipeline.
Fifteen African hunter-gathers were obtained from Lachance et al. 2012 [ 39], including 5 Pygmy (Py) (three Baka, one Bakola, and one Bedzan), 5 Hadza (Hz) (plus two technical replicates), and 5 Sandawe (Sw) using the Complete Genomics sequencing platform [ 68, 69].
We confirmed that the T>A, p.V600E mutation in BRAF was present in all five tumours (supplementary Figure S1, available at Annals of Oncology online), so to investigate mechanisms of resistance to vemurafenib, we carried out WGS using the Complete Genomics platform [ 10] (supplementary Table S1, available at Annals of Oncology online).
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We used SNPs inferred from the Complete Genomics (CG) collection of 42 human individuals from three African and five non-African populations (Drmanac et al. 2010), as well as the fixed differences between humans and chimpanzees that were assigned to the human branch.
A rare SV was one that was never found in the Complete Genomics Baseline Genome dataset.
Publicly available 1000 Genomes Project [ 10] data derived from the Complete Genomics high depth whole-genome sequencing platform was used for WGS map generation [ 29].
Nine of the 77 samples were also sequenced with the Complete Genomics and were used to compare the results of both experiments.
The leading 2G platforms using this technology include the Illumina genome analyser, which is currently the dominant platform in the field, the Applied Biosystems SOLiD platform, the Complete Genomics and the Roche Applied Science 454 genome sequencer (Metzker, 2010).
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