The ARIC (Atherosclerosis Risk In Communities) Study: JACC Focus Seminar 3/8

JD Wright, AR Folsom, J Coresh, AR Sharrett… - Journal of the American …, 2021 - jacc.org
Abstract ARIC (Atherosclerosis Risk In Communities) initiated community-based
surveillance in 1987 for myocardial infarction and coronary heart disease (CHD) incidence …

[HTML][HTML] Investigative genetic genealogy: Current methods, knowledge and practice

D Kling, C Phillips, D Kennett, A Tillmar - Forensic Science International …, 2021 - Elsevier
Investigative genetic genealogy (IGG) has emerged as a new, rapidly growing field of
forensic science. We describe the process whereby dense SNP data, commonly comprising …

A one-penny imputed genome from next-generation reference panels

BL Browning, Y Zhou, SR Browning - The American Journal of Human …, 2018 - cell.com
Genotype imputation is commonly performed in genome-wide association studies because it
greatly increases the number of markers that can be tested for association with a trait. In …

Efficient phasing and imputation of low-coverage sequencing data using large reference panels

S Rubinacci, DM Ribeiro, RJ Hofmeister, O Delaneau - Nature genetics, 2021 - nature.com
Low-coverage whole-genome sequencing followed by imputation has been proposed as a
cost-effective genoty** approach for disease and population genetics studies. However …

Development and standardization of an improved type 1 diabetes genetic risk score for use in newborn screening and incident diagnosis

SA Sharp, SS Rich, AR Wood, SE Jones… - Diabetes …, 2019 - diabetesjournals.org
OBJECTIVE Previously generated genetic risk scores (GRSs) for type 1 diabetes (T1D) have
not captured all known information at non-HLA loci or, particularly, at HLA risk loci. We …

Exome sequencing of 20,791 cases of type 2 diabetes and 24,440 controls

J Flannick, JM Mercader, C Fuchsberger, MS Udler… - Nature, 2019 - nature.com
Protein-coding genetic variants that strongly affect disease risk can yield relevant clues to
disease pathogenesis. Here we report exome-sequencing analyses of 20,791 individuals …

Genotype imputation using the positional burrows wheeler transform

S Rubinacci, O Delaneau, J Marchini - PLoS genetics, 2020 - journals.plos.org
Genotype imputation is the process of predicting unobserved genotypes in a sample of
individuals using a reference panel of haplotypes. In the last 10 years reference panels have …

Plant pangenomics: approaches, applications and advancements

MF Danilevicz, CGT Fernandez, JI Marsh… - Current opinion in plant …, 2020 - Elsevier
Highlights•Pan-genomes represent the complex genomic diversity found in plant
species.•Novel approaches are under development to enable more complex pan-genome …

[HTML][HTML] Genomics and functional genomics of Alzheimer's disease

MI Kamboh - Neurotherapeutics, 2022 - Elsevier
Alzheimer's disease (AD) is a complex and multifactorial neurodegenerative disease. Due to
its long clinical course and lack of an effective treatment, AD has become a major public …

Genetic determinants of telomere length from 109,122 ancestrally diverse whole-genome sequences in TOPMed

MA Taub, MP Conomos, R Keener, KR Iyer… - Cell Genomics, 2022 - cell.com
Genetic studies on telomere length are important for understanding age-related diseases.
Prior GWASs for leukocyte TL have been limited to European and Asian populations. Here …