Publications by authors named "Stephanie P Hao"

Underrepresented populations are often excluded from genomic studies owing in part to a lack of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human Genome Diversity Project (HGDP), which have recently been sequenced to high coverage, are valuable genomic resources because of the global diversity they capture and their open data sharing policies. Here, we harmonized a high-quality set of 4094 whole genomes from 80 populations in the HGDP and 1kGP with data from the Genome Aggregation Database (gnomAD) and identified over 153 million high-quality SNVs, indels, and SVs.

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Article Synopsis
  • Short-read genome sequencing (GS) shows promise as a primary diagnostic tool for autism spectrum disorder (ASD) and fetal structural anomalies (FSAs), outperforming standard tests like karyotype and exome sequencing (ES).
  • In a study of 1,612 families with ASD and 295 prenatal families, GS revealed a diagnostic variant in 7.8% of ASD cases, significantly higher than the diagnostic yields of chromosomal microarray (CMA) at 4.3% and ES at 2.7%.
  • GS also demonstrated a potential diagnostic yield of 46.1% in unselected FSAs, surpassing conventional tests, which indicates its strong efficacy and positions it as a recommended first-tier diagnostic
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Underrepresented populations are often excluded from genomic studies due in part to a lack of resources supporting their analyses. The 1000 Genomes Project (1kGP) and Human Genome Diversity Project (HGDP), which have recently been sequenced to high coverage, are valuable genomic resources because of the global diversity they capture and their open data sharing policies. Here, we harmonized a high quality set of 4,094 whole genomes from HGDP and 1kGP with data from the Genome Aggregation Database (gnomAD) and identified over 153 million high-quality SNVs, indels, and SVs.

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Article Synopsis
  • - A study examined genetic mutations in individuals with autism spectrum disorder (ASD) by analyzing data from 63,237 people, identifying 72 genes linked to ASD at a very low false discovery rate.
  • - The research found that genetic mutations contributing to ASD included de novo protein-truncating variants (PTVs), damaging missense variants, and copy number variants (CNVs), with CNVs posing the highest risk.
  • - When including data from a larger group with developmental delay, 373 genes were connected to both ASD and developmental delay, revealing different mutation frequencies in the two groups and suggesting shared genetic pathways between ASD and other neuropsychiatric disorders like schizophrenia.
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Osteomyelitis is a devastating complication of orthopaedic surgery and commonly caused by Staphylococcus aureus (S. aureus) and Group B Streptococcus (GBS, S. agalactiae).

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Background: Conventional bacterial cultures frequently fail to identify the dominant pathogen in polymicrobial foot infections, in which is the most common infecting pathogen. Previous work has shown that species-specific immunoassays may be able to identify the main pathogen in musculoskeletal infections. We sought to investigate the clinical applicability of a immunoassay to accurately identify the infecting pathogen and monitor its infectivity longitudinally in foot infection.

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Staphylococcus aureus infection of bone is challenging to treat because it colonizes the osteocyte lacuno-canalicular network (OLCN) of cortical bone. To elucidate factors involved in OLCN invasion and identify novel drug targets, we completed a hypothesis-driven screen of 24 S. aureus transposon insertion mutant strains for their ability to propagate through 0.

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Background: Infected diabetic foot ulcer (DFU) patients present with an impaired baseline physical function (PF) that can be further compromised by surgical intervention to treat the infection. The impact of surgical interventions on Patient Reported Outcomes Measurement Information System (PROMIS) PF within the DFU population has not been investigated. We hypothesize that preoperative PROMIS scores (PF, Pain Interference (PI), Depression) in combination with relevant clinical factors can be utilized to predict postoperative PF in DFU patients.

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Researchers investigated pain perception in patients with diabetic foot ulcers (DFUs) by analyzing pre- and postoperative physical function (PF), pain interference (PI), and depression domains of the Patient-Reported Outcome Measurement Information System (PROMIS). They hypothesized that ) because of painful diabetic peripheral neuropathy (DPN), a majority of patients with DFUs would have high PROMIS PI scores unchanged by operative intervention, and ) the initially assessed PI, PF, and depression levels would be correlated with final outcomes. Seventy-five percent of patients with DFUs reported pain, most likely because of painful DPN.

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Osteomyelitis is a devastating disease caused by microbial infection of bone. While the frequency of infection following elective orthopedic surgery is low, rates of reinfection are disturbingly high. is responsible for the majority of chronic osteomyelitis cases and is often considered to be incurable due to bacterial persistence deep within bone.

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