Bryce Schuler
YOU?
Author Swipe
View article: Expansion of clinical genetic testing since the completion of the human genome project
Expansion of clinical genetic testing since the completion of the human genome project Open
The sequencing of the first human genome led to expectations of the widespread use of genetics in medicine. However, assessing the true impact of genetic testing on clinical practice is challenging due to the lack of integration in the ele…
View article: Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics
Next-generation phenotyping: introducing phecodeX for enhanced discovery research in medical phenomics Open
Motivation Phecodes are widely used and easily adapted phenotypes based on International Classification of Diseases codes. The current version of phecodes (v1.2) was designed primarily to study common/complex diseases diagnosed in adults; …
Population genetic testing and SERPINA1 sequencing identifies unidentified alpha-1 antitrypsin deficiency alleles and gene-environment interaction with hepatitis C infection Open
Alpha-1 antitrypsin deficiency (AATD), a relatively common autosomal recessive genetic disorder, is underdiagnosed in symptomatic individuals. We sought to compare the risk of liver transplantation associated with hepatitis C infection wit…
Lessons learned: next-generation sequencing applied to undiagnosed genetic diseases Open
Rare genetic disorders, when considered together, are relatively common. Despite advancements in genetics and genomics technologies as well as increased understanding of genomic function and dysfunction, many genetic diseases continue to b…
A single-cell atlas of mouse lung development Open
Lung organogenesis requires precise timing and coordination to effect spatial organization and function of the parenchymal cells. To provide a systematic broad-based view of the mechanisms governing the dynamic alterations in parenchymal c…
A Single Cell Atlas of Lung Development Open
Summary Lung organogenesis requires precisely timed shifts in the spatial organization and function of parenchymal cells, especially during the later stages of lung development. To investigate the mechanisms governing lung parenchymal dyna…
Age-determined expression of priming protease TMPRSS2 and localization of SARS-CoV-2 in lung epithelium Open
The severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) novel coronavirus 2019 (COVID-19) global pandemic has led to millions of cases and hundreds of thousands of deaths. While older adults appear at high risk for severe disease,…
Age-determined expression of priming protease TMPRSS2 and localization of SARS-CoV-2 infection in the lung epithelium Open
The SARS-CoV-2 novel coronavirus global pandemic (COVID-19) has led to millions of cases and hundreds of thousands of deaths around the globe. While the elderly appear at high risk for severe disease, hospitalizations and deaths due to SAR…
View article: Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic
Successful Application of Whole Genome Sequencing in a Medical Genetics Clinic Open
A pilot program was initiated using whole genome sequencing (WGS) to diagnose suspected genetic disorders in the Genetics Clinic at Children's Hospital of Wisconsin. Twenty-two patients underwent WGS between 2010 and 2013. Initially, we ob…