Pulmonary alveolar proteinosis (PAP) is a devastating lung disease caused by abnormal
surfactant homeostasis, with a prevalence of 6–7 cases per million population worldwide …

Hunner-type interstitial cystitis (HIC) is a rare, chronic inflammatory disease of the urinary
bladder with unknown etiology and genetic background. Here, we conduct a genome-wide …

The adaptation of Tibetans to high-altitude environments has been studied extensively.
However, the direct assessment of evolutionary adaptation, ie, the reproductive fitness of …

Intracranial germ cell tumors (IGCTs) are rare brain neoplasms that mainly occur in children
and adolescents with a particularly high incidence in East Asian populations. Here, we …

Assortative mating (AM) is a pattern characterized by phenotypic similarities between mating
partners. Detecting the evidence of AM has been challenging due to the lack of large-scale …

Several recent studies detected fine-scale genetic structure in human populations. Hence,
groups conventionally treated as single populations harbour significant variation in terms of …

Variants of transcription factor binding sites (TFBSs) constitute an important part of the
human genome. Current evidence demonstrates close links between nucleotides within …

We performed genome-wide association studies of five gynecologic diseases using data of
46,837 subjects (5236 uterine fibroid, 645 endometriosis, 647 ovarian cancer (OC), 909 …

In the design of whole-genome sequencing (WGS) studies, sequencing depth is a crucial
parameter to define variant calling accuracy and study cost, with no standard …

Aleutian disease (AD) is the most significant health issue for farmed American mink. The
objective of this study was to identify the genomic regions subjected to selection for …