Comparisons of human genomes show that more base pairs are altered as a result of
structural variation—including copy number variation—than as a result of point mutations …

The reduced costs of sequencing have led to whole-genome sequences for a large number
of microorganisms, enabling the application of microbial genome-wide association studies …

Induced pluripotent stem cell (iPSC)-derived dopaminergic (DA) neurons are an expected
source for cell-based therapies for Parkinson's disease (PD). The regulatory criteria for the …

Recent genomic studies have identified chromosomal rearrangements defining new
subtypes of B-progenitor acute lymphoblastic leukemia (B-ALL), however many cases lack a …

Chromosomal instability in cancer consists of dynamic changes to the number and structure
of chromosomes,. The resulting diversity in somatic copy number alterations (SCNAs) may …

Summary The Cancer Genome Atlas revealed the genomic landscapes of human cancers.
In parallel, immunotherapy is transforming the treatment of advanced cancers. Unfortunately …

Copy number variants (CNVs) have been strongly implicated in the genetic etiology of
schizophrenia (SCZ). However, genome-wide investigation of the contribution of CNV to risk …

Human pluripotent stem cells (hPS cells) can self-renew indefinitely, making them an
attractive source for regenerative therapies. This expansion potential has been linked with …

Mixed phenotype acute leukaemia (MPAL) is a high-risk subtype of leukaemia with myeloid
and lymphoid features, limited genetic characterization, and a lack of consensus regarding …

Parkin-mediated mitophagy has been studied extensively, but whether mutations in parkin
contribute to Parkinson's disease pathogenesis through alternative mechanisms remains …