<p>(<b>A</b>) Protein conservation associated with signaling proteins carrying somatic disease mutations is significantly higher than for proteins with germline mutations. (<b>B</b>) The protein conservation distribution is split into five approximately equal bins (Q) and the relative number of somatic (red line) and germline (blue line) mutations associated with proteins in each bin is computed. As a comparison the respective values for all reported SNPs from UniProt are shown (gray line). (<b>C</b>) Protein variability associated with signaling proteins carrying germline disease mutations is significantly higher than for proteins with somatic mutations. (<b>D</b>) Proteins are binned according to their variability and the relative number ...
none5Human genetic variation is mainly due to Single Nucleotide Polymorphisms (SNPs), accounting for...
<div><p>The decreasing cost of sequencing is leading to a growing repertoire of personal genomes. Ho...
Genomic sequence mutations can be pathogenic in both germline and somatic cells. Several authors hav...
Contains fulltext : 182589.pdf (publisher's version ) (Open Access)Whole exomes of...
Many proteins and signaling pathways are present in most cell types and tissues and yet perform spec...
Many proteins and signaling pathways are present in most cell types and tissues and yet perform spec...
Integration of protein structural information with human genetic variation and pathogenic mutations ...
<div><p>The 1000 Genomes Project data provides a natural background dataset for amino acid germline ...
<p>(A) Somatic (blue) and common (gray) variants have different levels of enrichment or depletion de...
The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutation...
Abstract Background For many years, scientists believed that point mutations in genes are the geneti...
A wide variety of functional domains exist within human genes. Since different domains vary in their...
Despite the success of genome-wide association studies, much of the genetic contribution to complex ...
<p>We investigated properties of proteins involved in ten Reactome top-level pathways (<b>A</b>): Ce...
Mutations associated with tumorigenesis may either arise somatically or can be inherited through the...
none5Human genetic variation is mainly due to Single Nucleotide Polymorphisms (SNPs), accounting for...
<div><p>The decreasing cost of sequencing is leading to a growing repertoire of personal genomes. Ho...
Genomic sequence mutations can be pathogenic in both germline and somatic cells. Several authors hav...
Contains fulltext : 182589.pdf (publisher's version ) (Open Access)Whole exomes of...
Many proteins and signaling pathways are present in most cell types and tissues and yet perform spec...
Many proteins and signaling pathways are present in most cell types and tissues and yet perform spec...
Integration of protein structural information with human genetic variation and pathogenic mutations ...
<div><p>The 1000 Genomes Project data provides a natural background dataset for amino acid germline ...
<p>(A) Somatic (blue) and common (gray) variants have different levels of enrichment or depletion de...
The 1000 Genomes Project data provides a natural background dataset for amino acid germline mutation...
Abstract Background For many years, scientists believed that point mutations in genes are the geneti...
A wide variety of functional domains exist within human genes. Since different domains vary in their...
Despite the success of genome-wide association studies, much of the genetic contribution to complex ...
<p>We investigated properties of proteins involved in ten Reactome top-level pathways (<b>A</b>): Ce...
Mutations associated with tumorigenesis may either arise somatically or can be inherited through the...
none5Human genetic variation is mainly due to Single Nucleotide Polymorphisms (SNPs), accounting for...
<div><p>The decreasing cost of sequencing is leading to a growing repertoire of personal genomes. Ho...
Genomic sequence mutations can be pathogenic in both germline and somatic cells. Several authors hav...