Sentence examples for mutations including single from inspiring English sources

Recently, clinical NGS tests using targeted gene panels or whole exome sequencing (WES) have been used to identify pathogenic sequence mutations including single nucleotide variations (SNVs) and small insertion-deletions (indels) in both adult6,7,8 and pediatric cancer studies8,9,10.

All mutations, including single mutations, were included in this calculation.

A wide variety of mutations, including single base pair changes, can cause the null phenotypes attained in this work through transposon insertions and gene replacements.

These structures can be significantly disrupted by mutations including Single Nucleotide Polymorphisms (SNPs) [ 11, 12].

Currently it is possible to comprehensively identify genetic mutations, including single base changes, deletions, insertions and genomic rearrangements in early events for AML/MDS development.

We performed an exome-wide study of somatic mutations, including single nucleotide variants (SNVs) and short insertions and deletions (indels), from 100 colon adenocarcinoma patients obtained from The Cancer Genome Atlas (TCGA) project [ 16].

We detected newly selected mutations, including single-nucleotide polymorphisms (SNPs), copy-number variations and loss-of-heterozygosity (LOH) events.

Technological advances in DNA sequencing have revolutionized the study of genetic variation in the human genome and have allowed the identification of many types of mutations, including single-base pair substitutions, insertions/deletions, CNVs, inversions and repeat expansions, as well as both somatic and germline mutations.

These mutations include single nucleotide substitutions, small indels, and larger copy number aberrations and structural aberrations.

Twenty-two mutatincludedluded single nucleotide substitutions, resulting in silent, missense, or nonsense mutations, and deletions and insertions of as many as 234 nucleotides.

The patients were all diagnosed with adult onset Hereditary Spastic Paraplegia by a neurologist (CS) and in each case a mutation in SPAST was identified: the mutations included single nucleotide substitutions, insertions and deletions (Abrahamsen et al., 2013).