Publications by authors named "Yusuph Mavura"

It has been suggested that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental/subcontinental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort. Cases (N = 845) with suspected genetic disorders underwent ES for diagnosis.

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Purpose: It has been hypothesized that diagnostic yield (DY) from Exome Sequencing (ES) may be lower among patients with non-European ancestries than those with European ancestry. We examined the association of DY with estimated continental genetic ancestry in a racially/ethnically diverse pediatric and prenatal clinical cohort.

Methods: Cases (N=845) with suspected genetic disorders underwent ES for diagnosis.

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Article Synopsis
  • The study assessed the effectiveness of exome sequencing (ES) in diagnosing genetic disorders among pediatric and prenatal patients, particularly focusing on underrepresented minority (URM) and underserved (US) populations.
  • The diagnostic yield was found to be 23.8%, with a higher success rate in pediatric patients (26.7%) compared to prenatal patients (19.0%).
  • The results indicated no significant differences in diagnostic yield or inconclusive findings between URM/US and non-URM/non-US patients, highlighting ES's potential for diverse populations.
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Background: Men of African ancestry have disproportionately high incidence rates of prostate cancer (PCa) and have high mortality rates. While there is evidence for a higher genetic predisposition for incidence of PCa in men of African ancestry compared to men of European ancestry, there have been few transcriptomic studies on PCa in men of African ancestry in the African continent.

Objective: We performed transcriptomic profiling and fusion analysis on bulk RNA sequencing (RNA-seq) samples from 24 Nigerian PCa patients to investigate the transcriptomic and genomic rearrangement landscape of PCa in Nigerian men.

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