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Article
Comprehensive whole-genome sequence analyses provide insights into the genomic architecture of cerebral palsy
We performed whole-genome sequencing (WGS) in 327 children with cerebral palsy (CP) and their biological parents. We classified 37 of 327 (11.3%) children as having pathogenic/likely pathogenic (P/LP) variants...
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Grand Strategies and Everyday Struggles Under the New Cold War and COVID-19: A Sociological Political Economy
The ongoing geopolitical tensions and conflicts between China on various fronts including trade, technology, and have marked an ” (or “Warm War”) in the current global superpower competition between a rap...
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Article
Open AccessGenomic imbalances in the placenta are associated with poor fetal growth
Fetal growth restriction (FGR) is associated with increased risks for complications before, during, and after birth, in addition to risk of disease through to adulthood. Although placental insufficiency, failu...
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Article
Open AccessA large data resource of genomic copy number variation across neurodevelopmental disorders
Copy number variations (CNVs) are implicated across many neurodevelopmental disorders (NDDs) and contribute to their shared genetic etiology. Multiple studies have attempted to identify shared etiology among N...
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Article
Open AccessImpact of IQ on the diagnostic yield of chromosomal microarray in a community sample of adults with schizophrenia
Schizophrenia is a severe psychiatric disorder associated with IQ deficits. Rare copy number variations (CNVs) have been established to play an important role in the etiology of schizophrenia. Several of the l...
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Article
Whole genome sequencing resource identifies 18 new candidate genes for autism spectrum disorder
Yuen et al. developed a cloud-based database with 5,205 whole genomes from families with autism spectrum disorder (ASD). They identified 18 new candidate ASD-risk genes and approximately 100 risk genes and copy-n...
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Article
Open AccessClinically relevant copy number variations detected in cerebral palsy
Cerebral palsy (CP) represents a group of non-progressive clinically heterogeneous disorders that are characterized by motor impairment and early age of onset, frequently accompanied by co-morbidities. The cau...
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Article
Screening for Prostate Cancer—Beyond Total PSA, Utilization of Novel Biomarkers
Urology has been beset by several major trends that have shifted the entire paradigm for prostate cancer screening. These stem from a backlash against overdiagnosis and overtreatment due to prostate-specific a...
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Article
Open AccessCopy number variation in Han Chinese individuals with autism spectrum disorder
Autism spectrum disorders (ASDs) are a group of neurodevelopmental conditions with a demonstrated genetic etiology. Rare (<1% frequency) copy number variations (CNVs) account for a proportion of the genetic ev...
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Article
Regulation of the immune response by soybean isoflavones
Soybeans are rich in immuno-modulatory isoflavones such as genistein, daidzein, and glycitein. These isoflavones are well-known antioxidants, chemopreventive and anti-inflammatory agents. Several epidemiologic...
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Article
Open AccessTowards a comprehensive structural variation map of an individual human genome
Several genomes have now been sequenced, with millions of genetic variants annotated. While significant progress has been made in map** single nucleotide polymorphisms (SNPs) and small (<10 bp) insertion/del...
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Article
Origins and functional impact of copy number variation in the human genome
Structural variations of DNA greater than 1 kilobase in size account for most bases that vary among human genomes, but are still relatively under-ascertained. Here we use tiling oligonucleotide microarrays, co...
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Open AccessEvolutionary implications of inversions that have caused intra-strand parity in DNA
Chargaff's rule of DNA base composition, stating that DNA comprises equal amounts of adenine and thymine (%A = %T) and of guanine and cytosine (%C = %G), is well known because it was fundamental to the concept...
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Article
Physical activity in women planning sacrocolpopexy
This study describes preoperative physical activity in 314 stress-continent women with prolapse planning sacrocolpopexy. Seventy-six percent reported that they engaged in mild, 60% in moderate, and 26% in stre...
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Genome assembly comparison identifies structural variants in the human genome
Numerous types of DNA variation exist, ranging from SNPs to larger structural alterations such as copy number variants (CNVs) and inversions. Alignment of DNA sequence from different sources has been used to i...
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Article
Development of the Measure of Adaptations for Pelvic Symptoms (MAPS): the Importance of Incorporating the Female Patient’s Voice
Women with pelvic floor disorders use many adaptations in an attempt to minimize symptoms and enhance the quality of their lives. Existing condition-specific measures fail to capture the extent or impact of th...
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The role of prostate specific antigen in screening and management of clinically localized prostate cancer
