Sentence examples for mutations with minor from inspiring English sources

For instance, on page 295, they suggest that "much human susceptibility to disease may be the effects of rare mutations with minor phenotypic effects," which run counter to the basic assumptions underlying the current genome wide association studies.

Furthermore, it has been argued that the ability for a population to purge deleterious homozygous mutations is greater for large effect and/or lethal mutations and is not as effective for mutations with minor effects [ 26].

Mutations associated with minor resistance to protease inhibitors (L10I) and non-nucleoside reverse transcription inhibitors (E138A) were detected in sequences from patient TV919, and a mutation conferring high-level resistance to delavirdine (P236L) was detected in patient TV725.

Most A-T patients are compound heterozygous carriers of rare mutations in ATM (mutations with a minor allele frequency [MAF] below 1%), and the vast majority of these mutations lead to truncation of the protein, although rare missense mutations that cause A-T have also been identified.

Through these processes, we identified 23 germline mutations in breast cancer-affected members in this family, of which 21 are novel mutations and 2 are rare mutations (rs143160739, rs370052455) with minor allele frequency (MAF) <0.001 (Table  1).

D30N mutation, which occurred along with minor mutations G48K and G73S, is known to confer high level resistance to nelfinavir.

However, NPD does not differentiate between those with severe CFTR mutations from other CF patients with minor but serious mutations.

On the basis of the prior belief that RP-related mutations are rare; calls with minor allele frequencies greater than 0.5% in the 1000 genomes dataset were filtered.

However, Miller et al (2006) showed that in their study of adenocarcinoma with bronchioloalveolar cell feature treated with erlotinib, some of the tumours with KRAS mutations showed minor tumour shrinkage, although response rate of lung cancer with KRAS mutations was zero by RECIST.

Humans with mutations in GAS1 also present with minor forms of holoprosencephaly, including maxillary hypoplasia, hypoplastic nasal septum and cleft lip or palate [ 31].

Higher level of primary resistance prevalence was observed mainly because UDPS method could detect mutations in minor variants with 1 10% frequency.