7 Result(s)
within
Ryan E. Mills
Science, Humanities and Social Sciences, multidisciplinary
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Article
Open AccessMap** recurrent mosaic copy number variation in human neurons
When somatic cells acquire complex karyotypes, they often are removed by the immune system. Mutant somatic cells that evade immune surveillance can lead to cancer. Neurons with complex karyotypes arise during ...
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Article
Open AccessGenomic data resources of the Brain Somatic Mosaicism Network for neuropsychiatric diseases
Somatic mosaicism is defined as an occurrence of two or more populations of cells having genomic sequences differing at given loci in an individual who is derived from a single zygote. It is a characteristic o...
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Article
Open AccessCas9 targeted enrichment of mobile elements using nanopore sequencing
Mobile element insertions (MEIs) are repetitive genomic sequences that contribute to genetic variation and can lead to genetic disorders. Targeted and whole-genome approaches using short-read sequencing have b...
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Article
Open AccessMulti-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 suite of long-read, short-read, ...
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Article
Open AccessAn integrated map of structural variation in 2,504 human genomes
Structural variants are implicated in numerous diseases and make up the majority of varying nucleotides among human genomes. Here we describe an integrated set of eight structural variant classes comprising bo...
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Article
Map** copy number variation by population-scale genome sequencing
Genomic structural variants (SVs) are abundant in humans, differing from other forms of variation in extent, origin and functional impact. Despite progress in SV characterization, the nucleotide resolution arc...
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Article
Open AccessA highly annotated whole-genome sequence of a Korean individual
The genome of an anonymous Korean male has been sequenced using a broad spread of genomic techniques. This combinatorial approach allows for detailed characterization of sequence and structural variation. The ...
