The events displayed in the upper panels were detected in a modern-day human genome (NA07051: an ∼8 kbp deletion within chr7:16,169,440-16,177,556 and a ∼4 kbp duplication within chr7:22,496-26,553) and those in the lower panels in an ancient genome (RISE98: an ∼17 kbp deletion within chr6:32,506,809-32,524,264 and a ∼6 kbp duplication within chr1:1,520,604-1,526,959). The candidate CNV list used for genotyping was the long read CNV dataset described in Methods. Deducing the CNVs is straightforward with the modern-day genome data, however, it is less straightforward to distinguish these variations in ancient read data, especially for duplications. Note that this is one of the sample scenarios and we emphasize that a large number of CNVs ide...
Additional file 1. Table S1. The sample information of the natural population collected from dbVar a...
Chromosome breakage in germline and somatic genomes gives rise to copy number variation (CNV) respon...
Copy Number Variations (CNVs) are an important class of genetic alterations and have been associated...
(A) Case P2109_123 with DEL-INV-DEL, (B) Case P4855_512 with DUP-N-DUP, and (C) Case P2109_162 with ...
In all three panels, the x-axis represents a deleterious load-related statistic and the y-axis shows...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
Global patterns of Copy Number Variations (CNVs) in chromosomes are required to understand the dynam...
Thousands of genome segments appear to be present in widely varying copy number in different human g...
Despite considerable excitement over the potential functional significance of copy-number variants (...
In order to explore the diversity and selective signatures of duplication and deletion human copy-nu...
Despite considerable excitement over the potential functional significance of copy-number variants (...
(A) CNV analysis at the genic or exonic level was performed by comparison of read depths at base lev...
Rare copy number variations (CNVs) generated by human genomic rearrangements have been shown to play...
Copy-number variations (CNV), loss of heterozygosity (LOH), and uniparental disomy (UPD) are large g...
<div><p>Standard methods of DNA sequence analysis assume that sequences evolve independently, yet th...
Additional file 1. Table S1. The sample information of the natural population collected from dbVar a...
Chromosome breakage in germline and somatic genomes gives rise to copy number variation (CNV) respon...
Copy Number Variations (CNVs) are an important class of genetic alterations and have been associated...
(A) Case P2109_123 with DEL-INV-DEL, (B) Case P4855_512 with DUP-N-DUP, and (C) Case P2109_162 with ...
In all three panels, the x-axis represents a deleterious load-related statistic and the y-axis shows...
Copy number Variants (CNVs), which comprise deletions, insertions and inversions of genomic sequence...
Global patterns of Copy Number Variations (CNVs) in chromosomes are required to understand the dynam...
Thousands of genome segments appear to be present in widely varying copy number in different human g...
Despite considerable excitement over the potential functional significance of copy-number variants (...
In order to explore the diversity and selective signatures of duplication and deletion human copy-nu...
Despite considerable excitement over the potential functional significance of copy-number variants (...
(A) CNV analysis at the genic or exonic level was performed by comparison of read depths at base lev...
Rare copy number variations (CNVs) generated by human genomic rearrangements have been shown to play...
Copy-number variations (CNV), loss of heterozygosity (LOH), and uniparental disomy (UPD) are large g...
<div><p>Standard methods of DNA sequence analysis assume that sequences evolve independently, yet th...
Additional file 1. Table S1. The sample information of the natural population collected from dbVar a...
Chromosome breakage in germline and somatic genomes gives rise to copy number variation (CNV) respon...
Copy Number Variations (CNVs) are an important class of genetic alterations and have been associated...