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Lauren Margolin

Researcher at Broad Institute

Publications -  13
Citations -  1723

Lauren Margolin is an academic researcher from Broad Institute. The author has contributed to research in topics: Population & Structural variation. The author has an hindex of 9, co-authored 13 publications receiving 1086 citations. Previous affiliations of Lauren Margolin include Massachusetts Institute of Technology.

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A structural variation reference for medical and population genetics

TL;DR: A large empirical assessment of sequence-resolved structural variants from 14,891 genomes across diverse global populations in the Genome Aggregation Database (gnomAD) provides a reference map for disease-association studies, population genetics, and diagnostic screening.
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Multi-Ethnic Genome-wide Association Study for Atrial Fibrillation

Carolina Roselli, +260 more
- 11 Jun 2018 - 
TL;DR: This large, multi-ethnic genome-wide association study identifies 97 loci significantly associated with atrial fibrillation that are enriched for genes involved in cardiac development, electrophysiology, structure and contractile function.
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The genomic landscape of balanced cytogenetic abnormalities associated with human congenital anomalies

Claire Redin, +179 more
- 01 Jan 2017 - 
TL;DR: It is proposed that sequence-level resolution dramatically improves prediction of clinical outcomes for balanced rearrangements and provides insight into new pathogenic mechanisms, such as altered regulation due to changes in chromosome topology.
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Association Between Titin Loss-of-Function Variants and Early-Onset Atrial Fibrillation.

TL;DR: In a case-control study, there was a statistically significant association between an LOF variant in the TTN gene and early-onset AF, with the variant present in a small percentage of participants with early-ONSet AF (the case group).