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UnknownImplementing genomic screening in diverse populations.

Background

Population-based genomic screening has the predicted ability to reduce morbidity and mortality associated with medically actionable conditions. However, much research is needed to develop standards for genomic screening and to understand the perspectives of people offered this new...
S-EPMC7863616 | biostudies-literature
UnknownAdmixture mapping of peripheral artery disease in a Dominican population reveals a putative risk locus on 2q35.
Peripheral artery disease (PAD) is a form of atherosclerotic cardiovascular disease, affecting ∼8 million Americans, and is known to have racial and ethnic disparities. PAD has been reported to have a significantly higher prevalence in African Americans (AAs) compared to non-Hispanic European Americ...
S-EPMC10432698 | biostudies-literature
UnknownDetermining the effects and challenges of incorporating genetic testing into primary care management of hypertensive patients with African ancestry.
People of African ancestry (Blacks) have increased risk of kidney failure due to numerous socioeconomic, environmental, and clinical factors. Two variants in the APOL1 gene are now thought to account for much of the racial disparity associated with hypertensive kidney failure in Blacks. However, thi...
S-EPMC4818169 | biostudies-literature
UnknownIdentification of copy number variants with genome sequencing: Clinical experiences from the NYCKidSeq program.
Copy number variations (CNVs) play a significant role in human disease. While chromosomal microarray has traditionally been the first-tier test for CNV detection, use of genome sequencing (GS) is increasing. We report the frequency of CNVs detected with GS in a diverse pediatric cohort from the NYCK...
S-EPMC10505482 | biostudies-literature
UnknownA Protein-Truncating HSD17B13 Variant and Protection from Chronic Liver Disease.

Background

Elucidation of the genetic factors underlying chronic liver disease may reveal new therapeutic targets.

Methods

We used exome sequence data and electronic health records from 46,544 participants in the DiscovEHR human genetics study to identify genetic variants associated w...
S-EPMC6668033 | biostudies-literature
UnknownMolecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Purpose

Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.

Methods

Probands with neurologic, cardiac,...
S-EPMC10055570 | biostudies-literature
UnknownMolecular diagnostic yield of genome sequencing versus targeted gene panel testing in racially and ethnically diverse pediatric patients.

Purpose

Adoption of genome sequencing (GS) as a first-line test requires evaluation of its diagnostic yield. We evaluated the GS and targeted gene panel (TGP) testing in diverse pediatric patients (probands) with suspected genetic conditions.

Methods

Probands with neurologic, cardiac,...
S-EPMC10789486 | biostudies-literature
UnknownImplementing Integrated Genomic Risk Assessments for Breast Cancer: Lessons Learned from the eMERGE Study.

Objective

To develop and implement a pipeline for integrated breast cancer risk assessment using the BOADICEA model within the eMERGE study, incorporating polygenic risk scores (PRS), monogenic variants, family history, and clinical factors.

Materials and methods

A pipeline was deploy...
S-EPMC12258737 | biostudies-literature
UnknownIndividuals with JAK1 variants are affected by syndromic features encompassing autoimmunity, atopy, colitis, and dermatitis.
Inborn errors of immunity lead to autoimmunity, inflammation, allergy, infection, and/or malignancy. Disease-causing JAK1 gain-of-function (GoF) mutations are considered exceedingly rare and have been identified in only four families. Here, we use forward and reverse genetics to identify 59 individu...
S-EPMC10986756 | biostudies-literature
UnknownThe genetic underpinnings of variation in ages at menarche and natural menopause among women from the multi-ethnic Population Architecture using Genomics and Epidemiology (PAGE) Study: A trans-ethnic meta-analysis.
Current knowledge of the genetic architecture of key reproductive events across the female life course is largely based on association studies of European descent women. The relevance of known loci for age at menarche (AAM) and age at natural menopause (ANM) in diverse populations remains unclear. W...
S-EPMC6059436 | biostudies-literature
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