Cancer is driven by multiple types of genetic alterations, which range in size from point
mutations to whole-chromosome gains and losses, known as aneuploidy. Chromosome …

Genomic structural variants have long been implicated in phenotypic diversity and human
disease, but dissecting the mechanisms by which they exert their functional impact has …

Although recent genome-wide studies have provided valuable insights into the genetic basis
of human disease, they have explained relatively little of the heritability of most complex …

Accurate prediction of the functional effect of genetic variation is critical for clinical genome
interpretation. We systematically characterized the transcriptome effects of protein-truncating …

Because of their somatic cell origin, human induced pluripotent stem cells (HiPSCs) are
assumed to carry a normal diploid genome, and adaptive chromosomal aberrations have …

Both obesity and being underweight have been associated with increased mortality,.
Underweight, defined as a body mass index (BMI)≤ 18.5 kg per m2 in adults and≤− 2 …

Changes in DNA copy number, whether confined to specific genes or affecting whole
chromosomes, have been identified as causes of diseases and developmental …

Copy number variants (CNVs) were the subject of extensive research in the past years. They
are common features of the human genome that play an important role in evolution …

Structural variants (SVs) are an important source of human genome diversity, but their
functional effects are poorly understood. We mapped 61,668 SVs in 613 individuals from the …

DNA copy number variations (CNVs) are an important component of genetic variation,
affecting a greater fraction of the genome than single nucleotide polymorphisms (SNPs). The …