People

Daniel MacArthur
Daniel MacArthur
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 a research Affiliate at the Broad Institute of Harvard and MIT.

Daniel completed his PhD at the Institute for Neuromuscular Research in Sydney, Australia, working on a loss-of-function variant in the human ACTN3 gene associated with variation in muscle strength and athletic performance. He then spent three years as a postdoctoral fellow at the Wellcome Trust Sanger Institute in Hinxton, UK, where he coordinated the annotation of genetic variants in protein-coding genes for the 1000 Genomes Project pilot study, which was published in Nature in 2010. More recently he led a large collaborative study analyzing human loss-of-function variants that was published in Science in February 2012.

Daniel's current research focuses on the extraction of functional information from massive-scale human DNA sequence data; his research program is described in more detail here, and his publications are listed here.

Daniel is the co-founder of a genomics blog, Genomes Unzipped, and previously wrote extensively about human genetics and genomics for Wired Science. He also shares links related to the science and industry of human genetics on Twitter.

Karol Estrada
Karol Estrada is a postdoctoral research fellow in the MacArthur lab whose research focuses on exploring the effects of sequence variants both on complex traits and on rare, severe diseases. In 2005 he founded the department of Computational Genomics in the National Institute of Genomic Medicine in Mexico. In 2008 he moved to Rotterdam, the Netherlands to work as PhD student in Erasmus MC University. Between 2008-2012, he discovered 45 novel bone mineral density-associated loci in two separate first-authored Nature Genetics papers. He also co-led the largest height meta-analysis, which was published in Nature in 2010. Karol completed his PhD with Cum Laude in 2012. 

Karol's research currently focuses on the use of ExomeChip and exome sequencing to discover novel variants associated with osteoporosis and metabolic diseases, and the development of resources for rare disease genomics in Mexico. More details on his research can be found on his personal website.

Taru Tukiainen
Taru is a postdoctoral research fellow in the MacArthur lab whose research focuses on using transcriptome sequencing (RNA-seq) data to explore the biology of skeletal muscle and in the diagnosis of patients with rare, severe muscle diseases such as muscular dystrophy. 

Julian Maller
With strong computational skills and an engineering background, Julian joined the Daly lab (now ATGU) in 2004 after graduating from Columbia University. Between 2004-2007 Julian contributed to the method and software development within the group  as well as contributing to the first wave of AMD-associated loci. He subsequently went on to University of Oxford to pursue a DPhil in statistical genetics, supervised by Professor Peter Donnelly (2007-2012).

In end of 2012 Julian re-joined the Daly team and ATGU as a postdoctoral Research Fellow and he is currently focusing on various aspects of the analysis of RNA-sequencing data and building infrastructure for these analyses.

Brett Thomas
Brett leads the development of xBrowse, an online platform for the analysis of exome sequencing data from rare Mendelian disease families built as a joint collaboration between the MacArthur and Daly labs.

Monkol Lek
Monkol obtained his PhD at the University of Sydney, Australia, and is currently a postdoctoral scientist in the MacArthur lab. His major focus is the large-scale analysis of exome sequencing data, and its application to improving understanding of human biology and disease risk. 

Fengmei Zhao
Fengmei is a bioinformatics specialist in the MacArthur lab. She coordinates the collection of exome sequencing and other data from Mendelian disease collaborators, and leads the development of CNV calling methods within the group.


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