<p>(A) Number of single nucleotide variants (SNVs) of HKNPC1, GD1, GD2 and AG876 with each genome compared against reference EBV. The orange region represents the 322 SNVs shared by GD1, GD2 and HKNPC1 with exclusion of those of AG876, whereas the blue region represents the 347 SNVs shared by GD2 and HKNPC1 with exclusion of those of AG876 and GD1. (B) Non-synonymous SNVs shared by GD1, GD2 and HKNPC1 were categorized by protein function based on the work of Tabouriech et al. <a href="http://www.plosone.org/article/info:doi/10.1371/journal.pone.0036939#pone.0036939-Tarbouriech1" target="_blank">[2]</a>. (C) Non-synonymous SNVs shared by GD1, GD2 and HKNPC1 and those shared by GD2 and HKNPC1 were pooled together and categorized by function o...
<p>The numbers of heterozygous variants are those that have a minimum of 5× coverage. The dbSNP perc...
<p>Six types of gene structure are focused here, including: gene size, CDS length, number of exons, ...
<p>A) The Venn diagram indicates the number of genes showing non-synonymous mutation in type 1 strai...
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evo...
<p>SNPs are shown in black/grey, insertions in red, deletions in blue, and complex variants in orang...
© 2020, The Author(s). Structural variants (SVs) rearrange large segments of DNA1 and can have profo...
2013-11-18This thesis explores a variety of characteristics towards their use in ranking single nucl...
<p>(A) In total, 117 mutational events (<a href="http://www.plosgenetics.org/article/info:doi/10.137...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Abstract Characterizing how variation at the level of individual nucleotides contributes to traits a...
With the completion of human genome sequencing project and the rapid development of sequencing techn...
Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the same haplot...
On average, we identified 220 (range, 126–358) somatically acquired point mutations per case. Of the...
Background: Genome-wide association studies of common diseases for common, low penetrance causal var...
Recent advances in high-throughput genome sequencing technology have paved the way for the field to ...
<p>The numbers of heterozygous variants are those that have a minimum of 5× coverage. The dbSNP perc...
<p>Six types of gene structure are focused here, including: gene size, CDS length, number of exons, ...
<p>A) The Venn diagram indicates the number of genes showing non-synonymous mutation in type 1 strai...
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evo...
<p>SNPs are shown in black/grey, insertions in red, deletions in blue, and complex variants in orang...
© 2020, The Author(s). Structural variants (SVs) rearrange large segments of DNA1 and can have profo...
2013-11-18This thesis explores a variety of characteristics towards their use in ranking single nucl...
<p>(A) In total, 117 mutational events (<a href="http://www.plosgenetics.org/article/info:doi/10.137...
The field of human genetics has evolved at a dramatically fast pace over the past few decades. Break...
Abstract Characterizing how variation at the level of individual nucleotides contributes to traits a...
With the completion of human genome sequencing project and the rapid development of sequencing techn...
Multi-nucleotide variants (MNVs), defined as two or more nearby variants existing on the same haplot...
On average, we identified 220 (range, 126–358) somatically acquired point mutations per case. Of the...
Background: Genome-wide association studies of common diseases for common, low penetrance causal var...
Recent advances in high-throughput genome sequencing technology have paved the way for the field to ...
<p>The numbers of heterozygous variants are those that have a minimum of 5× coverage. The dbSNP perc...
<p>Six types of gene structure are focused here, including: gene size, CDS length, number of exons, ...
<p>A) The Venn diagram indicates the number of genes showing non-synonymous mutation in type 1 strai...