Nicole J Lake

Oct 16, 2024 | nature.com | Nicole J Lake |Kaiyue Ma |Stephanie L. Battle |Kenneth Ng |Alison G. Compton |John Christodoulou | +4 more

AbstractMitochondrial DNA (mtDNA) has an important yet often overlooked role in health and disease. Constraint models quantify the removal of deleterious variation from the population by selection and represent powerful tools for identifying genetic variation that underlies human phenotypes1,2,3,4. However, nuclear constraint models are not applicable to mtDNA, owing to its distinct features.

May 10, 2024 | digitalcommons.library.tmc.edu | Samantha Baxter |Jennifer E. Posey |Nicole J Lake |Nara Sobreira

PURPOSE: Mendelian disease genomic research has undergone a massive transformation over the past decade. With increasing availability of exome and genome sequencing, the role of Mendelian research has expanded beyond data collection, sequencing, and analysis to worldwide data sharing and collaboration. METHODS: Over the past 10 years, the National Institutes of Health-supported Centers for Mendelian Genomics (CMGs) have played a major role in this research and clinical evolution.

Apr 8, 2024 | medrxiv.org | Yun Hong |Sergiu Pasca |Daniela Puiu |Nicole J Lake

The authors have declared no competing interest. This research was conducted using the UK Biobank Resource under Application Number 17731. This work was supported by National Heart, Lung and Blood Institute, National Institutes of Health (NIH) grants R01HL144569 (D.E.A) and NHLBI: R01HL156144 (L.P.G.). The content is solely the responsibility of the authors and does not necessarily represent the official views of the NIH.