Sentence examples for variants was checked from inspiring English sources

The segregation of sequence variants was checked in other family members (when available) by BigDyeR Terminator v3.1 sequencing.

These variants were checked by Sanger sequencing or Taqman assay.

Unique variants were checked by repeat PCR and re-sequencing.

Names of all variants were checked using the Mutalyzer program (http://www.LOVD.nl/mutalyzer/).

Thereafter, all variants were checked for their presence in known databases, for example, dbSNP.

To exclude common germline polymorphisms, the detected variants were checked against dbSNP 138 [ 35], 1000 Genomes [ 36], and ExAC [ 37] databases.

The final variants were checked for frequencies in the Sequencing Initiative Suomi (SISu, http://sisu.fimm.fi/), a database that contains exome data from > 3000 individuals of Finnish origin [41].

Then, all protein assemblies predicted by DACO across all TF variants were checked for contradictory statements, e.g. whether they harbored proteins that are marked to positively influence transcription as well as proteins that are annotated with repressory function.

To avoid false-positive RNA DNA differences (RDDs), in which all reads align only in one direction and mismatch sites appear at the end of the alignment, each variant alignment was checked manually.

To exclude that potentially disease-causing variants were ignored, it was checked whether variants with a non-reliable coverage <20-fold which were novel and had serious consequences were among the group of 388 prioritized genes and no variants were detected.

To finalise the consensus sequence, the most common variant at each SNP was checked by mapping the Illumina HiSeq reads to the candidate repeats using bwa-mem [ 54], extracting variant frequencies from the Samtools mpileup file [ 58] using VarScan 2 [ 59].