Add to ORKGSmall insertions and deletions (indels) and large structural variations (SVs) are major contributors to human genetic diversity and disease. However, mutation rates and characteristics of de novo indels and SVs in the general population have remained largely unexplored. We report 332 validated de novo structural changes identified in whole genomes of 250 families, including complex indels, retrotransposon insertions, and interchromosomal events. These data indicate a mutation rate of 2.94 indels (1–20 bp) and 0.16 SVs (>20 bp) per generation. De novo structural changes affect on average 4.1 kbp of genomic sequence and 29 coding bases per generation, which is 91 and 52 times more nucleotides than de novo substitutions, respectively. This con...
Structural variants are implicated in numerous diseases and make up the majority of varying nucleoti...
<div><p>It has long been suspected that the rate of mutation varies across the human genome at a lar...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors...
Most human traits, ranging from physical appearance to behavior and disease susceptibility, are in p...
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current kno...
Structural variation (SV) represents a major source of differences between individual human genomes ...
Structural variants are implicated in numerous diseases and make up the majority of varying nucleoti...
<div><p>It has long been suspected that the rate of mutation varies across the human genome at a lar...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...
Small insertions and deletions (indels) and large structural variations (SVs) are major contributors...
Most human traits, ranging from physical appearance to behavior and disease susceptibility, are in p...
Mutations create variation in the population, fuel evolution and cause genetic diseases. Current kno...
Structural variation (SV) represents a major source of differences between individual human genomes ...
Structural variants are implicated in numerous diseases and make up the majority of varying nucleoti...
<div><p>It has long been suspected that the rate of mutation varies across the human genome at a lar...
It has long been suspected that the rate of mutation varies across the human genome at a large scale...