Germline variation and somatic mutation are intricately connected and together shape
human traits and disease risks. Germline variants are present from conception, but they vary …

Every cell in the human brain possesses a unique genome that is the product of the
accumulation of somatic mutations starting from the first postzygotic cell division and …

Malformations of cortical development (MCD) are neurological conditions involving focal
disruptions of cortical architecture and cellular organization that arise during …

Debate remains around the anatomical origins of specific brain cell subtypes and lineage
relationships within the human forebrain,,,,,–. Thus, direct observation in the mature human …

Rapid advances in sequencing and analysis technologies have enabled the accurate
detection of diverse forms of genomic variants represented as heterozygous, homozygous …

Results We introduce prancSTR, a novel method for detecting mosaic STRs from individual
high-throughput sequencing datasets. prancSTR is designed to detect loci characterized by …

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 …

Single-nucleotide polymorphism (SNP) is widely used in the study of disease-related genes
and in the genetic study of animal and plant strains. Therefore, SNP detection is crucial for …

Somatic mutations (also known as acquired mutations) are emerging as common, age-
related processes that occur in all cells throughout the body. Somatic mutations are …

Purpose The gold standard for identification of post-zygotic variants (PZVs) is droplet digital
polymerase chain reaction or high-depth sequencing across multiple tissues types. These …