Increased burden of ultra-rare structural variants localizing to boundaries of topologically associated domains in schizophrenia
M Halvorsen, R Huh, N Oskolkov, J Wen… - Nature …, 2020 - nature.com
Despite considerable progress in schizophrenia genetics, most findings have been for large
rare structural variants and common variants in well-imputed regions with few genes …
rare structural variants and common variants in well-imputed regions with few genes …
Comprehensive identification of somatic nucleotide variants in human brain tissue
Background Post-zygotic mutations incurred during DNA replication, DNA repair, and other
cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of …
cellular processes lead to somatic mosaicism. Somatic mosaicism is an established cause of …
Cas9 targeted enrichment of mobile elements using nanopore sequencing
TL McDonald, W Zhou, CP Castro, C Mumm… - Nature …, 2021 - nature.com
Mobile element insertions (MEIs) are repetitive genomic sequences that contribute to
genetic variation and can lead to genetic disorders. Targeted and whole-genome …
genetic variation and can lead to genetic disorders. Targeted and whole-genome …
Identification and genotyping of transposable element insertions from genome sequencing data
Transposable element (TE) mobilization is a significant source of genomic variation and has
been associated with various human diseases. The exponential growth of population‐scale …
been associated with various human diseases. The exponential growth of population‐scale …
Applying Machine Learning to Detect Somatic Structural Variation in Bulk Whole Genome Sequencing
D Averbuj - 2020 - search.proquest.com
Somatic structural variation (SSV) is an established hallmark of cancer and is emerging as
an important contributor to the pathogenesis of neurological diseases such as autism and …
an important contributor to the pathogenesis of neurological diseases such as autism and …