Sentence examples for in the human reference from inspiring English sources

The authors use this to close gaps in the human reference genome and map structural variation.

We thank M. Kremitzki for technical support in generating sequence maps and contigs of BACs not currently included in the human reference sequence.

Nonetheless, using the EuQuad database18, which identifies G-quadruplex forming sequences in eukaryotic genomes, the three GGGGCC-repeats and adjacent GGGGC nucleotides present in the human reference C9orf72 gene sequence, are recognized as a G-quadruplex forming sequence.

To identify the precise genomic location of each assembly unit, we used LASTZ25 with parameters (-gapped -gap = 600,150,-hspthresh = 4500,-seed 4500,-seednotransition -ydrop = 12of19chain) to align each assembly unit to each chromosome in the human reference genome.

Therefore, if this locus was created by an ARMD event in the human reference genome, one should discard this locus in the Venter insertion category.

* Not observed in the human reference genome (hg19/GRCh37).

We aligned a set of 12 flowcell lanes, 82.6 million reads in total, to the human reference genome using Eland, RMAP and Slider.

GERP RS scores in BigWig format for the human reference genome hg19 were downloaded at http://hgdownload.cse.ucsc.edu/gbdb/hg19/bbi/All_hg19_RS.bw.ucsc.edu/gbdb/hg19/bbi/All_hg19_RS.bw

The Burrows-Wheeler aligner [ 13] was used to align the raw reads from each sequencing lane (in fastq format) to the human reference genome (NCBI37/hg19) using default parameters.

In silico digestion of the human reference genome (http://hgdownload.cse.ucsc.edu/goldenPath/hg18/bigZips) was performed with nine commercially available and methylation-insensitive restriction enzymes.

The HIPK2 clones differ from the human reference sequence in the Uniprot database in two amino acid residues (H233R, F378S).