Whole genome sequencing and rare variant analysis in essential tremor families.

1. PLoS One. 2019 Aug 12;14(8):e0220512. doi: 10.1371/journal.pone.0220512. eCollection 2019.

Whole genome sequencing and rare variant analysis in essential tremor families.

Odgerel Z(1), Sonti S(1), Hernandez N(2), Park J(2), Ottman R(3)(4)(5)(6), Louis ED(2)(7), Clark LN(1)(8).

Author information: (1)Department of Pathology and Cell Biology, College of Physicians and Surgeons, Columbia University, New York, NY, United States of America. (2)Department of Neurology, Yale School of Medicine, Yale University, New Haven, CT, United States of America. (3)G.H Sergievsky Center, Columbia University, New York, NY, United States of America. (4)Department of Neurology, College of Physicians and Surgeons, Columbia University New York, NY, United States of America. (5)Department of Epidemiology, Mailman School of Public Health, Columbia University, NY, United States of America. (6)Division of Epidemiology, New York State Psychiatric Institute, New York, NY, United States of America. (7)Department of Chronic Disease Epidemiology, Yale School of Public Health, New Haven, CT, United States of America. (8)Taub Institute for Research on Alzheimer’s Disease and the Aging Brain, College of Physicians and Surgeons, Columbia University, New York, NY, United States of America.

Essential tremor (ET) is one of the most common movement disorders. The etiology of ET remains largely unexplained. Whole genome sequencing (WGS) is likely to be of value in understanding a large proportion of ET with Mendelian and complex disease inheritance patterns. In ET families with Mendelian inheritance patterns, WGS may lead to gene identification where WES analysis failed to identify the causative single nucleotide variant (SNV) or indel due to incomplete coverage of the entire coding region of the genome, in addition to accurate detection of larger structural variants (SVs) and copy number variants (CNVs). Alternatively, in ET families with complex disease inheritance patterns wit