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All changes are recorded in the release history since the launch of EMPOP 2. SAM is a valuable contribution for mtDNA database queries as it takes the burden of sequence alignment from the user.
Furthermore, given the rate with which NGS sequence data are currently being produced (Mardis, 2008), the additional burden of sequence preprocessing must be kept relatively modest so as to avoid adding undue overhead to the bioinformatics pipeline.
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This technique, referred to as high resolution melting (HRM), can distinguish single base variation and then has the potential to identify SNPs without the burden of sequencing [13], [14].
Since pathogenic germline mutations always exist in a heterozygous state within germline DNA and homozygous germline variants only exist for non-clinically important variants such as polymorphisms, HRM is thus ideal for minimizing the burden of sequencing.
CS can reduce the data collection burden of MRI sequences by a factor dependent on the ability of the data to be compressed in some domain.
Although designing and testing primers to avoid co-amplification of numts is a good laboratory practice, compilation of numts representative of the entire mitochondrial genome is valuable to catalog and characterize the overall nuclear burden of these sequences.
This removes the burden of explicit declaration of sequence type.
This technique is applicable to the detection of either DNA or RNA modifications [73] and overcomes many of the limitations and burdens of bisulfite sequencing, with unique kinetic characteristics observable for over 25 types of base modifications [67].
We present an extensive assessment of mutation burden through sequencing analysis of >81,000 tumors from pediatric and adult patients, including tumors with hypermutation caused by chemotherapy, carcinogens, or germline alterations.
For example, for the NR data, when 492 individuals are sequenced, the estimated burden of mutation from the 493rd sequenced individual is about 0.76% (Table 1).
Sequence-specific burden of oxidative DNA lesions was determined based on digest of mtDNA with the formamidopyrimidine-DNA glycolase (fpg), followed by quantitative real time PCR (qRT-PCR) amplification.
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