Sentence examples for mutation calls for from inspiring English sources

Within each cancer type, we determined the number of samples that have binary mutation calls for both members of a pair of genes.

These dots are intentionally larger than the smaller blue dots representing all the mutation calls for the particular gene in the COSMIC database, on which they are overlaid.

Curated somatic mutation calls for 281 TCGA stomach adenocarcinoma samples with known anatomical sites were retrieved from the TCGA Data Portal (https://tcga-data.nci.nih.gov/tcga/) on February 19 , 2014

Gene expression profiles and somatic mutation calls for a large collection of lung adenocarcinoma tumors (n=459 primary tumors from the RNASeqV2 collection) were downloaded from "The Cancer Genome Atlas" (TCGA) data portal (https://tcga-data.nci.nih.gov/tcga/tcgaHome2.jsp).

High precision was demonstrated for the 3 mutant sample levels and WT, with at least 99% correct mutation calls for all mutation assays across multiple lots, platforms and operators for both within- and between-run experiments.

Level 3 data for DNA sequence mutation (somatic mutation calls for each participant), copy-number (putative copy-number calls, per sample), methylation (calculated beta values mapped to the genome, per sample), and mRNA (expression calls for genes, per sample) were used for analysis of different 'omics dimensions.

On each triplicate the Mutation Call for each SM was compared between laboratories and the % concordance reported, where concordance is defined as the maximum of the percentage of samples which agree on Mutation call.

It shows that cancer inheritance can occur in the absence of an obvious germline mutation, calling for caution in assessing early cancers in populations with common founder mutations such as p.R337H in Southern Brazil.

We have to note that some genes tend to have high false discovery rate in mutation calling, for instance HYDIN, SYNE1, and USH2A [ 29] – it is an advantage of the proposed methodology is that despite the high mutation rate, none of these genes reached the significance necessary to be included in the list of putative driver genes.

In brief, the variant detection pipeline consisted of the mapping of Illumina reads to the S. pombe genome using BWA, removal of duplicates, indel-based realignment using GATK, base quality score recalibration, mutation calling for a single-nucleotide variant using a GATK Unified Genotyper, and annotation using SnpEff (Sloan Kettering Bioinformatics Core).

This wide functional heterogeneity of Cx50 missense mutations calls for a structure-function correlation approach.