Sentence examples for mutations and exonic from inspiring English sources

Using target capture/deep MPS data and normalized mean coverage per individual exon, we have shown that concurrent detection of point mutations and exonic deletions is feasible; this approach significantly improves diagnostic procedures and yields in a single assay with high sensitivity and specificity.

Superimposing these data with resequencing revealed CNVs to (1) be sufficient to cause disease, (2) Mendelize heterozygous deleterious alleles, and (3) contribute oligogenic alleles by combining point mutations and exonic CNVs in multiple genes.

These latter sequences were added because promoter mutations and exonic mutations have been reported in RAPSN [5], [14], and promoter, exonic, and intronic mutations have been reported in CHRNE [5], [10], [12].

In summary, our capture-based deep MPS approach allows concurrent detection of point mutations and exonic deletions.

Point mutations and exonic deletions in KIF1C have both been reported in HSP (Novarino et al. 2014) and spastic ataxia (Dor et al. 2014), illustrating the fact that both diseases are part of the same clinical spectrum.

In this report, we focus our investigation on the utilization of the same sequence data sets for the detection of point mutations and exonic deletions to improve diagnosis in one comprehensive approach.

We retrieved all known mutations, including point mutations and small indels, intronic and exonic mutations, and a large deletion in a patient with Duchenne muscular dystrophy, validating the sensitivity and reproducibility of this strategy on a heterogeneous subset of NMD with different genetic inheritance.

We demonstrate that this strategy can detect several types of mutations including intronic and exonic changes as well as small indel and a large deletion.

In particular, we detected homozygous and heterozygous mutations validating the detection of both alleles, point mutations or small insertion or deletions, intronic and exonic mutations.

96 After the first discovery of a missense mutation and an exonic deletion, 97 a few other missense and splice-site mutations, as well as deletions, were identified in homozygous or compound heterozygous states.

Samples and their individual somatic mutations of exonic and splice-site.