Evan K. Maxwell
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View article: Genomic Ascertainment of <i>CHEK2</i> -Related Cancer Predisposition
Genomic Ascertainment of <i>CHEK2</i> -Related Cancer Predisposition Open
Importance There is clear evidence that deleterious germline variants in CHEK2 increase risk for breast and prostate cancers; there is limited or conflicting evidence for other cancers. Objective To quantify the prevalence of as well as ca…
View article: Genetic risk factors for COVID-19 and influenza are largely distinct
Genetic risk factors for COVID-19 and influenza are largely distinct Open
Coronavirus disease 2019 (COVID-19) and influenza are respiratory illnesses caused by the severe acute respiratory syndrome coronavirus 2 (SARS-CoV-2) and influenza viruses, respectively. Both diseases share symptoms and clinical risk fact…
View article: Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk
Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk Open
Importance Atrial fibrillation (AF) has a substantial genetic component. The importance of polygenic risk is well established, while the contribution of rare variants to disease risk warrants characterization in large cohorts. Objective To…
View article: Genotyping, sequencing and analysis of 140,000 adults from Mexico City
Genotyping, sequencing and analysis of 140,000 adults from Mexico City Open
The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City 1 . Here we generated genotype and exome-sequencing data for…
View article: Yield of genetic association signals from genomes, exomes, and imputation in the UK biobank
Yield of genetic association signals from genomes, exomes, and imputation in the UK biobank Open
Whole genome sequencing (WGS), whole exome sequencing (WES), and array genotyping with imputation (IMP) are common strategies for assessing genetic variation and its association with medically relevant phenotypes. To date there has been no…
View article: Biallelic <i>BRCA</i> Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline <i>BRCA1/2</i> Carriers
Biallelic <i>BRCA</i> Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline <i>BRCA1/2</i> Carriers Open
PURPOSE Breast and ovarian tumors in germline BRCA1/2 carriers undergo allele-specific loss of heterozygosity, resulting in homologous recombination deficiency (HRD) and sensitivity to poly-ADP-ribose polymerase (PARP) inhibitors. This stu…
View article: A deep catalog of protein-coding variation in 985,830 individuals
A deep catalog of protein-coding variation in 985,830 individuals Open
Coding variants that have significant impact on function can provide insights into the biology of a gene but are typically rare in the population. Identifying and ascertaining the frequency of such rare variants requires very large sample …
View article: Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions
Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions Open
Background Cardiometabolic diseases are highly comorbid, but their relationship with female‐specific or overwhelmingly female‐predominant health conditions (breast cancer, endometriosis, pregnancy complications) is understudied. This study…
View article: Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies
Assessment of genetic susceptibility to multiple primary cancers through whole-exome sequencing in two large multi-ancestry studies Open
Background Up to one of every six individuals diagnosed with one cancer will be diagnosed with a second primary cancer in their lifetime. Genetic factors contributing to the development of multiple primary cancers, beyond known cancer synd…
View article: Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study
Genotyping, sequencing and analysis of 140,000 adults from the Mexico City Prospective Study Open
The Mexico City Prospective Study (MCPS) is a prospective cohort of over 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City. We generated genotype and exome sequencing data for all i…
View article: Population-scale analysis of common and rare genetic variation associated with hearing loss in adults
Population-scale analysis of common and rare genetic variation associated with hearing loss in adults Open
To better understand the genetics of hearing loss, we performed a genome-wide association meta-analysis with 125,749 cases and 469,497 controls across five cohorts. We identified 53/c loci affecting hearing loss risk, including common codi…
View article: Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection
Impact of natural selection on global patterns of genetic variation and association with clinical phenotypes at genes involved in SARS-CoV-2 infection Open
Significance Viruses are strong sources of natural selection pressure during human evolutionary history. Investigating genetic diversity and detecting signatures of natural selection at host genes related to severe acute respiratory syndro…
View article: Classic Thrombophilias and Thrombotic Risk Among Middle‐Aged and Older Adults: A Population‐Based Cohort Study
Classic Thrombophilias and Thrombotic Risk Among Middle‐Aged and Older Adults: A Population‐Based Cohort Study Open
Background Five classic thrombophilias have been recognized: factor V Leiden (rs6025), the prothrombin G20210A variant (rs1799963), and protein C, protein S, and antithrombin deficiencies. This study aimed to determine the thrombotic risk …
View article: Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants
Medical manifestations and health care utilization among adult MyCode participants with neurodevelopmental psychiatric copy number variants Open
PURPOSE: Recurrent pathogenic copy number variants (pCNVs) have large-effect impacts on brain function and represent important etiologies of neurodevelopmental psychiatric disorders (NPDs), including autism and schizophrenia. Patterns of h…
View article: Exome sequencing and analysis of 454,787 UK Biobank participants
Exome sequencing and analysis of 454,787 UK Biobank participants Open
A major goal in human genetics is to use natural variation to understand the phenotypic consequences of altering each protein-coding gene in the genome. Here we used exome sequencing 1 to explore protein-altering variants and their consequ…