Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …
The genomic characteristics and origin of chromothripsis
A Marcozzi, F Pellestor, WP Kloosterman - Chromothripsis: Methods and …, 2018 - Springer
In 2011 a phenomenon involving complex chromosomal rearrangements was discovered in
cancer genomes. This phenomenon has been termed chromothripsis, on the basis of its …
cancer genomes. This phenomenon has been termed chromothripsis, on the basis of its …
Genotyping inversions and tandem duplications
Abstract Motivation Next Generation Sequencing (NGS) has enabled studying structural
genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been …
genomic variants (SVs) such as duplications and inversions in large cohorts. SVs have been …
[PDF][PDF] Identifying pathogenic long indels in patients with intellectual disability
S Pajusalu, R Pfundt, LELM Vissers, MP Kwint… - 3nr - ely.ee
AIM We analysed the exome sequencing (WES) data from 98 patients with intellectual
disability (ID) to identify pathogenic long indels located in exons of 650 ID genes [1] using …
disability (ID) to identify pathogenic long indels located in exons of 650 ID genes [1] using …