Alyna Khan
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View article: Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations
Genetic determinants and genomic consequences of non-leukemogenic somatic point mutations Open
Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as leukemogenic point mutations or mosaic chromosomal alterations (mCAs), are…
View article: Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification Open
View article: Genome-wide association study and multi-ancestry meta-analysis identify common variants associated with carotid artery intima-media thickness
Genome-wide association study and multi-ancestry meta-analysis identify common variants associated with carotid artery intima-media thickness Open
Carotid artery intima-media thickness (cIMT) is a measurement of subclinical atherosclerosis that predicts future cardiovascular events, including stroke and myocardial infarction. Genome-wide association studies (GWAS) have identified onl…
View article: Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk
Rare damaging CCR2 variants are associated with lower lifetime cardiovascular risk Open
Background Previous work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown whether targeting CCR2, the cognate receptor of CCL2, provides protection against human athe…
View article: Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants
Unveiling the Genetic Landscape of Coronary Artery Disease Through Common and Rare Structural Variants Open
Background Genome‐wide association studies have identified several hundred susceptibility single nucleotide variants for coronary artery disease (CAD). Despite single nucleotide variant‐based genome‐wide association studies improving our u…
View article: The PRIMED Consortium: Reducing disparities in polygenic risk assessment
The PRIMED Consortium: Reducing disparities in polygenic risk assessment Open
View article: The PRIMED Consortium: Reducing disparities in polygenic risk assessment
The PRIMED Consortium: Reducing disparities in polygenic risk assessment Open
View article: Rare variant contribution to the heritability of coronary artery disease
Rare variant contribution to the heritability of coronary artery disease Open
View article: The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations
The Genetic Determinants and Genomic Consequences of Non-Leukemogenic Somatic Point Mutations Open
Clonal hematopoiesis (CH) is defined by the expansion of a lineage of genetically identical cells in blood. Genetic lesions that confer a fitness advantage, such as point mutations or mosaic chromosomal alterations (mCAs) in genes associat…
View article: Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations
Admix-kit: an integrated toolkit and pipeline for genetic analyses of admixed populations Open
Summary Admixed populations, with their unique and diverse genetic backgrounds, are often underrepresented in genetic studies. This oversight not only limits our understanding but also exacerbates existing health disparities. One major bar…
View article: Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts
Dual diagnosis of UQCRFS1-related mitochondrial complex III deficiency and recessive GJA8-related cataracts Open
View article: Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification
Whole-genome sequencing uncovers two loci for coronary artery calcification and identifies ARSE as a regulator of vascular calcification Open
View article: Rare damaging<i>CCR2</i>variants are associated with lower lifetime cardiovascular risk
Rare damaging<i>CCR2</i>variants are associated with lower lifetime cardiovascular risk Open
Background Previous work has shown a role of CCL2, a key chemokine governing monocyte trafficking, in atherosclerosis. However, it remains unknown whether targeting CCR2, the cognate receptor of CCL2, provides protection against human athe…
View article: Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A
Full-length Isoform Sequencing for Resolving the Molecular Basis of Charcot-Marie-Tooth 2A Open
This case highlights the utility of full-length isoform sequencing for characterizing the molecular mechanism of undiagnosed rare diseases and expands our understanding of the genetic basis for CMT2A.
View article: Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups
Evaluating the use of blood pressure polygenic risk scores across race/ethnic background groups Open
View article: Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A
Full-length isoform sequencing for resolving the molecular basis of Charcot-Marie-Tooth 2A Open
Objectives Transcript sequencing of patient derived samples has been shown to improve the diagnostic yield for solving cases of likely Mendelian disorders, yet the added benefit of full-length long-read transcript sequencing is largely une…
View article: Perceptions of forensic scientists on statistical models, sequence data, and ethical implications for DNA evidence evaluations: A qualitative assessment
Perceptions of forensic scientists on statistical models, sequence data, and ethical implications for DNA evidence evaluations: A qualitative assessment Open
With the introduction of next generation sequencing (NGS) technology in the forensic field, it will be of interest to assess if forensic scientists feel equipped to interpret and present DNA evidence for sequence data. Here, we describe pe…
View article: Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program
Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: Experiences from the NHLBI TOPMed program Open
View article: Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension
Insights From a Large-Scale Whole-Genome Sequencing Study of Systolic Blood Pressure, Diastolic Blood Pressure, and Hypertension Open
Background: The availability of whole-genome sequencing data in large studies has enabled the assessment of coding and noncoding variants across the allele frequency spectrum for their associations with blood pressure. Methods: We conducte…
View article: Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential
Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of indeterminate potential Open
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of indeterminate…
View article: Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes
Rare coding variants in 35 genes associate with circulating lipid levels—A multi-ancestry analysis of 170,000 exomes Open
View article: Fourth Annual Summer Research Summit on Health Equity Organized by the Center of Excellence in Health Equity, Training and Research, Baylor College of Medicine, Houston, Texas 77030, USA on May 20, 2021
Fourth Annual Summer Research Summit on Health Equity Organized by the Center of Excellence in Health Equity, Training and Research, Baylor College of Medicine, Houston, Texas 77030, USA on May 20, 2021 Open
The fourth annual summer research summit organized by the Center of Excellence (COE) in Health Equity, Training and Research, Baylor College of Medicine (BCM) was held on May 20, 2021. The theme of this year’s summit was ‘Strengthening Our…
View article: Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: experiences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program
Recommendations on the use and reporting of race, ethnicity, and ancestry in genetic research: experiences from the NHLBI Trans-Omics for Precision Medicine (TOPMed) program Open
The ways in which race, ethnicity, and ancestry are used and reported in human genomics research has wide-ranging implications for how research is translated into clinical care, incorporated into public understanding, and implemented in pu…
View article: Recommendations on the use and reporting of race, ethnicity, and\n ancestry in genetic research: experiences from the NHLBI Trans-Omics for\n Precision Medicine (TOPMed) program
Recommendations on the use and reporting of race, ethnicity, and\n ancestry in genetic research: experiences from the NHLBI Trans-Omics for\n Precision Medicine (TOPMed) program Open
The ways in which race, ethnicity, and ancestry are used and reported in\nhuman genomics research has wide-ranging implications for how research is\ntranslated into clinical care, incorporated into public understanding, and\nimplemented in…
View article: A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program
A System for Phenotype Harmonization in the National Heart, Lung, and Blood Institute Trans-Omics for Precision Medicine (TOPMed) Program Open
Genotype-phenotype association studies often combine phenotype data from multiple studies to increase statistical power. Harmonization of the data usually requires substantial effort due to heterogeneity in phenotype definitions, study des…
View article: Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices
Chromosome Xq23 is associated with lower atherogenic lipid concentrations and favorable cardiometabolic indices Open
View article: Chromosome Xq23 Is Associated with Lower Atherogenic Lipid Concentrations and Favorable Cardiometabolic Indices
Chromosome Xq23 Is Associated with Lower Atherogenic Lipid Concentrations and Favorable Cardiometabolic Indices Open
Autosomal genetic analyses of blood lipids have yielded key insights for coronary heart disease (CHD). However, X chromosome genetic variation is understudied for blood lipids in large sample sizes. We now analyze genetic and blood lipid d…
View article: Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential
Bidirectional Mendelian randomization supports bidirectional causality between telomere length and clonal hematopoiesis of intermediate potential Open
Human genetic studies support an inverse causal relationship between leukocyte telomere length (LTL) and coronary artery disease (CAD), but directionally mixed effects for LTL and diverse malignancies. Clonal hematopoiesis of indeterminate…
View article: Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes
Rare coding variants in 35 genes associate with circulating lipid levels – a multi-ancestry analysis of 170,000 exomes Open
Large-scale gene sequencing studies for complex traits have the potential to identify causal genes with therapeutic implications. We performed gene-based association testing of blood lipid levels with rare (minor allele frequency<1%) predi…
View article: Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale
Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale Open