<p>Sequence variants key marks reveal by experimental, statistic and <i>in silico</i> analysis. A detailed integrative analysis of nsSVs and their corresponding amino acid changes. The haplotypes corresponds to the frequent haplotypes detected in total samples (frequency >5%). SVs with probably damage effect in protein are in bold text. (%) Percentage. (NA) not applicable. (No) not observed.</p
<p>TCC = tumor cell content (%); VF = variant frequency; AR = amplicon reads</p><p>*: variant observ...
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide po...
Abstract: Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive a...
Over the past fifty years, the genetic bases for many human diseases have been discovered. Genome-wi...
The effect of single nucleotide variants (SNVs) in coding and noncoding regions is of great interest...
© 2020, The Author(s). Structural variants (SVs) rearrange large segments of DNA1 and can have profo...
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evo...
Sequence variants (SV) are protein products that contain unintended substitutions in the amino acid ...
Computational tools are widely used for interpreting variants detected in sequencing projects. The c...
Abstract Grouping variants based on gene mapping can augment the power of rare variant...
<p>A) Variants with an allelic frequency below 5% were discarded, resulting in 4,396 variants. B) On...
Structural variants (SVs) contribute greater diversity at the nucleotide level between two human gen...
Over the last decade, a substantial amount of work in genetics has been done with the goal of unders...
BACKGROUND: The widespread clinical application of genome-wide sequencing has resulted in many new d...
Increasingly, the molecular genetics laboratory has to assess the biological significance of changes...
<p>TCC = tumor cell content (%); VF = variant frequency; AR = amplicon reads</p><p>*: variant observ...
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide po...
Abstract: Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive a...
Over the past fifty years, the genetic bases for many human diseases have been discovered. Genome-wi...
The effect of single nucleotide variants (SNVs) in coding and noncoding regions is of great interest...
© 2020, The Author(s). Structural variants (SVs) rearrange large segments of DNA1 and can have profo...
Structural variants (SVs) rearrange large segments of DNA1 and can have profound consequences in evo...
Sequence variants (SV) are protein products that contain unintended substitutions in the amino acid ...
Computational tools are widely used for interpreting variants detected in sequencing projects. The c...
Abstract Grouping variants based on gene mapping can augment the power of rare variant...
<p>A) Variants with an allelic frequency below 5% were discarded, resulting in 4,396 variants. B) On...
Structural variants (SVs) contribute greater diversity at the nucleotide level between two human gen...
Over the last decade, a substantial amount of work in genetics has been done with the goal of unders...
BACKGROUND: The widespread clinical application of genome-wide sequencing has resulted in many new d...
Increasingly, the molecular genetics laboratory has to assess the biological significance of changes...
<p>TCC = tumor cell content (%); VF = variant frequency; AR = amplicon reads</p><p>*: variant observ...
A major interest in human genetics is to determine whether a nonsynonymous single-base nucleotide po...
Abstract: Genome-wide association studies (GWAS) and whole-exome sequencing (WES) generate massive a...