Daniel is a group leader within the Analytic and Translational Genetics Unit (ATGU) at Massachusetts General Hospital. He is also Assistant Professor at Harvard Medical School, and the Co-Director of Medical and Population Genetics at the Broad Institute of Harvard and MIT.
Jessica is a senior staff scientist coordinating our work on ExAC and other related data aggregation projects, as well as our interactions with industry.
Hayley oversees and coordinates rare disease activities within the lab, as well as the Broad Center for Mendelian Genomics. She has a background in ethics and regulatory affairs.
Monkol is a computational biologist focusing on the large-scale analysis of exome sequencing data, and its application to improving understanding of human biology and disease risk. He leads analysis and methods development for our Center for Mendelian Genomics.
Jamie is a research scientist leading the group’s wetlab efforts. She is particularly interested in the characterization of genes and variants implicated in muscle disease.
Ben is a principal software engineer working on developing methods for interpreting DNA sequencing data in the context of severe Mendelian diseases. He is the lead developer for our seqr rare disease analysis platform.
Irina is a postdoctoral scientist interested in the functional annotation of protein-truncating variants and their impact on human biology. She studied protein function annotation via protein complexes during her PhD at the University of Cambridge, and worked on de novo genome assembly and gene annotation at European Bioinformatics Institute before joining the lab.
Laurent is a postdoctoral fellow interested in developing novel computational approaches for large-scale genomics. He is working on statistical methods for novel gene discovery in Mendelian diseases, and leading the Genome Aggregation Database (gnomAD).
Konrad is a postdoctoral scientist researching the prevalence and impact of loss-of-function variation in healthy human genomes and developing software pipelines for the improved annotation thereof.
|Anne O’Donnell Luria
Anne uses exome sequencing data to identify genetic variation in health and disease, focusing on muscle disease and metabolic disorders. Trained as an epigeneticist during her MD-PhD at Columbia, she is now a clinical genetics fellow and pediatrician with expertise in human phenotyping.
Beryl is a graduate student from the Biomedical and Biological Sciences Program at Harvard who works on using RNA sequencing data to interpret the functional impact of human genetic variation.
Sahar is an undergraduate student at Harvard studying Molecular and Cellular Biology. She is investigating the phenotypic effects of loss-of-function mutations in targeted genes in order to explore therapeutic strategies for neurodegenerative disorders.
Matt is an undergraduate student at Harvard developing machine learning methods for variant filtration.
Harindra is part of the Engineering team at the Broad Center for Mendelian Genomics at ATGU. Prior to that, he helped launch the Center for Bioinformatics, Biostatistics and Integrative Biology (C3BI) at the Pasteur Institute in Paris France and was with the Cancer group at the Broad Institute of MIT. He works on developing software tools and methods that help study rare genetic diseases. These involve building open source software tools that enable the automated sharing and matching of patient data, facilitating the gathering of phenotypes, extending the capabilities of a web based analysis platform and designing the technology architecture of initiatives that exchange information directly with patients. He has a Bachelors degree in Computer science with minors in Biology and Mathematics along with a MBA with a concentration in Strategy and Business analysis.
Preeti is a Software Engineer developing software tools and portals for understanding loss-of-function variants. She studied Computational Biology and Computer Science during her masters at School of Computer Science, Carnegie Mellon University where she worked on developing android application for improving the procedure of pancreatic cancer treatment.
Laura is a computational biologist jointly based in the MacArthur lab and the Broad Institute Data Sciences and Data Engineering (DSDE) platform. She works on the development of variant-calling pipelines for rare disease samples.
Peter Fan Peter is an associate computational biologist jointly based in the MacArthur Lab and the Broad Institute’s Data Sciences and Data Engineering Team. A North Carolina native and a recent grad of UNC-Chapel Hill, he’s interested in building bioinformatics platforms to better clean and visualize large biological data sets.
Kristen is an associate computational biologist who works on the preliminary analyses and management of datasets for the Exome Aggregation Consortium and novel gene discovery for Mendelian diseases.
Matt is an associate computational biologist interested in developing interactive visualization tools for exploring large biological datasets. He studied protein structural biology during his PhD at the University of British Columbia.
Elise is a computational biologist currently working in the lab on the genomic diagnosis of rare disease families. Prior to joining the lab she worked at the NIH’s Undiagnosed Diseases Program.
Samantha is the clinical project manager at the Broad Institute’s Center for Mendelian Genomics. She is a genetic counselor who has worked in the area of cardiovascular genetics and now focuses on the management and sharing of both clinical and genetic data.
Tom is a senior analyst for the Broad’s Center for Mendelian Genomics, where he has a special focus on the role of regulatory genetic variation in inherited disease. He is also the clinical laboratory director for the Broad Institute’s Clinical Research Sequencing Platform.
David recently completed his undergraduate degree in Immunobiology at Brown University. He is developing cell lines to study human genetic variation as a research associate in the wet lab.
|Eric Vallabh Minikel
Eric is a computational scientist interested in using large-scale exome sequencing data to inform diagnosis and therapeutic development strategy in Mendelian disease, particularly neurodegenerative disorders. He now works part-time while completing his graduate degree in the Biomedical and Biological Sciences Program at Harvard.
Liwen worked in the lab from 2015-2016, using exome sequencing to identify a genetic diagnosis for over 180 families with late-onset limb-girdle muscle weakness. She has now returned to full-time clinical responsibilities as a medical student at Harvard Medical School.
|Andrew J. Hill
Andrew is a software engineer and genomics researcher who worked in the lab on developing improved methods for variant annotation and the application of sequencing to Mendelian genetics. He is now a PhD student at the University of Washington.
Karol Estrada worked as a postdoctoral research fellow using exome sequencing to investigate the genetic basis of type 2 diabetes, and whole-genome sequencing of patients with neuromyelitis optica. He now works as a research scientist at Biogen Idec.
Brett worked as a software engineer leading the development of xBrowse, an online platform for the analysis of exome data from rare Mendelian disease families built in collaboration between the MacArthur and Daly labs. He is now a consultant software developer.
James Ware is a clinical cardiologist working on clinical variant interpretation and mendelian disease gene discovery, with a focus on inherited heart disease. He was a postdoctoral research fellow based jointly in the MacArthur lab and the Seidman lab at Harvard Medical School. He has now started his own lab at Imperial College London.
Taru was a postdoctoral research fellow in the lab focused on using transcriptome sequencing (RNA-seq) data from populations as well as single cells to investigate the molecular basis of gene inactivation on the female X chromosome. She is now a research fellow at the Finnish Institute of Molecular Medicine.
Daniel worked as a computational analyst focused on investigating the impact of loss-of-function (LoF) variation in healthy humans and developing quantitative methods for assessing the veracity of splice site annotations. He is now a graduate student at Harvard.
Emma worked in the lab over the summers of 2015 and 2016 as a high school rotation student, focused on projects involving variant calling and curation. She is now an undergraduate at Yale.
Leon is a high school student who worked in the lab in the summer of 2016 and developed protocol to image and quantify in vitro models of patient muscle cells.
Danielle was a research associate working in the wet lab, working on engineering human embryonic stem cells with patient specific mutations.
Fengmei was a bioinformatics specialist who coordinated the collection of exome sequencing and other data from Mendelian disease collaborators.