Sentence examples for variants and somatic from inspiring English sources

It includes germline variants and somatic variants, and the latter are all from COSMIC.

We show that our assay identifies actionable findings, both inherited variants and somatic mutations, in 25 out of 38 samples.

cloneHD can be used to perform an integrative analysis of somatic CNAs, B-allele variants, and somatic SNVs across multiple correlated samples.

Such diagnostic services also omit the comparison with a matched germline control, which is essential to increase the analytical sensitivity and distinguish between inherited variants and somatic mutations.

For each domain of each TF, I counted the number of variants and somatic mutations observed within and outside the domain, and computed the relative enrichment of each domain for somatic mutations using Fisher's test.

Early studies of allozyme variants and somatic cell hybrids of four genes in different marsupial species (G6PD, PGK1, GLA and HPRT [ 26- 30]) proposed that marsupial XCI was incomplete and variable between tissues and species (reviewed in [ 17]).

We would like to filter the delivered variants according to the specific focus of the databases, e.g. germline variants for InSiGHT and somatic variants for COSMIC, to identify those variants of direct interest to a given curation context.

Substantial progress has been made for sequencing of CTCs and cfDNA, and studies have shown that each on its own may uncover similar somatic single nucleotide variants (SSNVs) and somatic copy number alterations (SCNAs) as detected in matched tumor biopsies3,4,5.

Detection of clonal germ line sequence variants and simultaneous somatic mtDNA mutations in tumors and mucosa of the lung cancer patients strongly support this notion.

There were 11 germline variants and 10 somatic mutations.

Of the 22 such clusters, 10 are consistent with inversion variants identified in at least one normal individual (9/10 cases were observed in at least four normal individuals), demonstrating that a large fraction of structural variants found in more than one cancer dataset are inherited genetic variants and not somatic rearrangements.