Mary Elizabeth De Haas

Genomic Ascertainment of CHEK2 -Related Cancer Predisposition

Sun Young Kim, Jung Kim, Mark Ramos, Jeremy S. Haley et autres

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 cancer risk and survival associated with …

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Tracheal resection improves voice quality and dyspnea in patients with tracheal stenosis

Özlem Okumus, Theresa Störk, Hafsa Kaman, Jérôme Defosse et autres

Background Tracheal stenosis can significantly impair quality of life. This study investigates the impact of tracheal resection on dyspnea, voice quality and swallowing function in patients with tracheal stenosis. Methods & Materials We retrospectively analyzed data from all patients who underwent tracheal …

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Kidney multiome-based genetic scorecard reveals convergent coding and regulatory variants

Hongbo Liu, Amin Abedini, Eunji Ha, Ziyuan Ma et autres

Kidney dysfunction is a major cause of mortality, but its genetic architecture remains elusive. In this study, we conducted a multiancestry genome-wide association study in 2.2 million individuals and identified 1026 (97 previously unknown) independent loci. Ancestry-specific analysis indicated an attenuation of …

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Author Correction: A deep catalogue of protein-coding variation in 983,578 individuals

Kathie Sun, Xiaodong Bai, Siying Chen, Suying Bao et autres

Since the version of the article initially published, in the Data availability section, the sentence “Regeneron can make GHS individual-level genomic data available to qualified academic noncommercial researchers through the Regeneron pre-clinical Research portal at https://regeneron.envisionpharma.com/vt_regeneron/ under a data access agreement” has …

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Rare and Common Genetic Variation Underlying Atrial Fibrillation Risk

Oliver Bundgaard Vad, Laia Meseguer Monfort, Christian Paludan‐Müller, Konstantin Kahnert et autres

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 identify rare predicted loss-of-function (pLOF) variants associated with AF …

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A deep catalogue of protein-coding variation in 983,578 individuals

Kathie Sun, Xiaodong Bai, Siying Chen, Suying Bao et autres

. Here we present a catalogue of human protein-coding variation, derived from exome sequencing of 983,578 individuals across diverse populations. In total, 23% of the Regeneron Genetics Center Million Exome (RGC-ME) data come from individuals of African, East Asian, Indigenous American, Middle …

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Su1581 LOSS OF MTARC1 PROTECTS AGAINST METABOLIC DYSFUNCTIONASSOCIATED STEATOTIC LIVER DISEASE IN MICE

Caroline Bickerton, Xiaofei Yin, Bryan C. MacDonald, Alessandro Arduini et autres

PMS2CL interference leading to erroneous identification of a pathogenic PMS2 variant in Black patients

Jacqueline Cappadocia, Lisa B. Aiello, Michael J. Kelley, Bryson W. Katona et autres

This study investigates the frequency of a clinically reported variant in PMS2, NM_000535.7:c.2523G>A p.(W841*), from next-generation sequencing studies in two racially diverse cohorts. We identified clinical reports of the PMS2 c.2523G>A p.(W841*)variant in the National Precision Oncology Program’s (NPOP) somatic testing database …

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A large meta-analysis identifies genes associated with anterior uveitis

Sahar Gelfman, Arden Moscati, Santiago Méndez Huergo, Rujin Wang et autres

Anterior Uveitis (AU) is the inflammation of the anterior part of the eye, the iris and ciliary body and is strongly associated with HLA-B*27. We report AU exome sequencing results from eight independent cohorts consisting of 3,850 cases and 916,549 controls. We …

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Biallelic BRCA Loss and Homologous Recombination Deficiency in Nonbreast/Ovarian Tumors in Germline BRCA1/2 Carriers

Dylane Wineland, Anh Ngoc Le, Ryan M. Hausler, Gregory J. Kelly et autres

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 study investigated whether biallelic loss and HRD also occur in primary nonbreast/ovarian tumors that …

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Rare coding variants in CHRNB2 reduce the likelihood of smoking

Veera Manikandan Rajagopal, Kyoko Watanabe, Joelle S. Mbatchou, Ariane H. Ayer et autres

Abstract Human genetic studies of smoking behavior have been thus far largely limited to common variants. Studying rare coding variants has the potential to identify drug targets. We performed an exome-wide association study of smoking phenotypes in up to 749,459 individuals and …

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Inference of Causal Relationships Between Genetic Risk Factors for Cardiometabolic Phenotypes and Female‐Specific Health Conditions

Brenda Xiao, Digna R. Velez Edwards, Anastasia Lucas, Theodore George Drivas et autres

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 aimed to estimate the cross-trait genetic overlap and influence of genetic burden of cardiometabolic traits on health …

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