Genetic variants that cause rare disorders may remain elusive even after expansive testing, such as exome sequencing. The diagnostic yield of genome sequencing, particularly after a negative ...
Based on single-stranded DNA library method, we established an efficient workflow to parallelly construct targeted genomic and epigenomic sequencing libraries from a small amount of DNA. We applied ...
To address these limitations, we developed noninvasive prenatal screening using deep trio-exome sequencing; this comprehensive noninvasive method has high sensitivity for detecting fetal ...
Exome sequencing analyzes nearly 20,000 genes that provide instructions for making proteins, which play many critical roles in the body. This is where most known disease-causing pathogenic or likely ...
Next-generation whole exome sequencing to delineate the genetic basis of primary congenital glaucoma
Table 1 Summary of the unlinked familial cases in our cohort with primary congenital glaucoma patients. Affected individuals in four families (PKGL034, 036, 044 and 062) underwent detailed medical ...
Beyond connectivity closing exome gap enhances genomic workflows in health systems with scalable Epic Aura integration and current variant data.
NuGenA (Nurse Led Genetic Counselling and Awareness): A proof-of-concept to implementation of genetic counseling for HBOC in LMICs. Clinical features and occurrence of other cancers in patients with ...
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