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Alignment of whole-genome sequencing data, variant calling and subsequent analysis was carried out by MH and TMK.
Use of these tools facilitates integration of LRG data variant data in dbSNP (NCBI Database of Genetic Variation) [ 24, 25].
Artemis was first a genome annotation tool, which has been extended to visualize high-throughput read mapping data, variant calls and user-defined input types.
IGV allows researchers to visualize many different types of genomic data together, including NGS data, variant calls, microarray data and genome annotations.
In NGS data, variant calls are usually reported in a standardized Variant Call Format (VCF), which represents indels at the most 5′ position on the forward strand of DNA; a process called 'left alignment' [ 12].
For NGS data, variant detection is made through comparison with the reference human genome sequence, which was generated from several individuals and generally has not been altered to reflect the major alleles in a specific population [ 11].
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Table 1 shows the number of variants from the source data, variants mapped onto UniProt protein level, and PDB level.
According to our data, variants other than those in the coding region could alter lung cancer risk.
Many hsp70 genes have been reported, generating a confusing array of data, variants, and nomenclatures in databases and printed literature.
All relevant data (variants and associated phenotypes) were submitted to the appropriate LOVD-USHBase, which can be accessed in http://www.LOVD.nl/USH2A (submission IDs: 0004401−0004452).
Next, to enrich for novel and very rare variants, we filtered out any SNVs present in an in-house database (Ameur et al. 2014) of 700 exome data variants (Uppsala Genome Center, Uppsala, Sweden).
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