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Extensive allelic heterogeneity, however, necessitates analysis of all exons and splice sites to identify mutations for individual patients.
There were no significant case control differences in mutation burden overall, for non-silent mutations, for individual genes, or with respect either to the nature of the gene mutations or to mutational enrichment at the pathway level.
Deletion mutations for individual chromosomes were treated separately.
COSMIC has been successfully adapted to hold complete catalogues of somatic mutations for individual cancer samples.
Testing for all known recessive mutations for individual loci is theoretically possible, and sensitivity for detection of carriers will improve over time.
With the advent of next-generation sequencing, COSMIC has been adapted to hold complete catalogues of somatic mutations for individual tumour samples.
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TI studies may provide a relevant perspective on the loss of mutations for individuals with transmitted drug resistance [7], [8].
Clinical trials of poly(ADP-ribose) polymerase inhibitors have demonstrated promise in individuals with germline mutations in upstream DNA damage repair pathways, notably those with BRCA1 or BRCA2 mutations, for individuals with breast or ovarian cancers.
On the other hand, the CDRV model postulates that complex traits might derive from many rare mutations for individuals (usually <1%) but with relative strong effects (i.e., perhaps OR > 10).
The domain peak heights correspond to the mutation frequencies for individual domains containing mutations in the colon and breast cancer sets, respectively.
This excess can impact the burden of private mutations for each individual, defined here as the proportion of heterozygous variants in each newly sequenced individual that are novel compared to another large sample of sequenced individuals.
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developments for individual
variants for individual
transformants for individual
adjustments for individual
mutations for other
mutations for genetic
mutations for several
mutations for cystic
mutations for dominant
mutations for single
mutations for targeted
mutations for evolutionary
mutations for functional
mutations for different
mutations for further
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