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Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms

Publication: Journal Article

Fine, Rebecca, Tune Pers, Tiffany Amariuta, Soumya Raychaudhuri, and Joel Hirschhorn. 2019. “Benchmarker: An Unbiased, Association-Data-Driven Strategy to Evaluate Gene Prioritization Algorithms”. American Journal of Human Genetics 104 (6): 1025-39.

Early progression to active tuberculosis is a highly heritable trait driven by 3q23 in Peruvians

Publication: Journal Article

Luo, Suliman, Asgari, Amariuta, Baglaenko, Martinez-Bonet, Ishigaki, et al. 2019. “Early Progression to Active Tuberculosis Is a Highly Heritable Trait Driven by 3q23 in Peruvians”. Nature Communications 10 (3765).

Dana Macfarlane

Person: Technical Research Assistant

I graduated with my BA from Temple University in 2018 and moved to Boston in the fall of 2018. At first, I worked in the prominent biotech industry area in Cambridge, but joined the Raychaudhuri lab in the fall of 2019 for better academic opportunity. I work mainly alongside Yuriy on projects...

Kamil Slowikowski graduates from Harvard and joins Massachusetts General Hospital

News: August 13, 2019

Kamil and Soumya, Countway Library of Medicine, Boston, MA. 2019. Examination Chairman: Peter Kharchenko Examiners: Chirag Patel, I-Cheng Ho, and Jeffrey Browning Kamil graduated from the Bioinformatics and Integrative Genomics PhD program at Harvard University in Boston, MA. His dissertation was...

Heritability enrichment of specifically expressed genes identifies disease-relevant tissues and cell types

Publication: Journal Article

Finucane, Hilary, Yakir Reshef, Verneri Anttila, Kamil Slowikowski, Alexander Gusev, Andrea Byrnes, Steven Gazal, et al. 2018. “Heritability Enrichment of Specifically Expressed Genes Identifies Disease-Relevant Tissues and Cell Types”. Nature Genetics 50 (4): 621-29.

High-throughput identification of noncoding functional SNPs via type IIS enzyme restriction

Publication: Journal Article

Li, Gang, Marta Martínez-Bonet, Di Wu, Yu Yang, Jing Cui, Hung N. Nguyen, Pierre Cunin, et al. 2018. “High-Throughput Identification of Noncoding Functional SNPs via Type IIS Enzyme Restriction”. Nature Genetics 50 (8): 1180-88.

Fine-mapping and functional studies highlight potential causal variants for rheumatoid arthritis and type 1 diabetes

Publication: Journal Article

Westra, Harm-Jan#, Marta# Martínez-Bonet, Suna Onengut-Gumuscu, Anette Lee, Yang Luo, Nikola Teslovich, Jane Worthington, et al. 2018. “Fine-Mapping and Functional Studies Highlight Potential Causal Variants for Rheumatoid Arthritis and Type 1 Diabetes”. Nature Genetics 50 (10): 1366-74.

An Integrated Clinical Program and Crowdsourcing Strategy for Genomic Sequencing and Mendelian Disease Gene Discovery.

Publication: Journal Article

Haghighi, Alireza, Joel B. Krier, Agnes Tóth-Petróczy, Christopher A. Cassa, Natasha Y. Frank, Nikkola Carmichael, Eizabeth Fieg, et al. 2018. “An Integrated Clinical Program and Crowdsourcing Strategy for Genomic Sequencing and Mendelian Disease Gene Discovery.”. Npj Genomic Medicine 3: 21.

Tubular cell and keratinocyte single-cell transcriptomics applied to lupus nephritis reveal type I IFN and fibrosis relevant pathways

Publication: Journal Article

Der, Suryawanshi, Morozov, Kustagi, Goilav, Ranabathou, Izmirly, et al. 2019. “Tubular Cell and Keratinocyte Single-Cell Transcriptomics Applied to Lupus Nephritis Reveal Type I IFN and Fibrosis Relevant Pathways”. Nature Immunology 20 (7): 915-27.

Joyce Kang

Person: Harvard Medical School MD-PhD Student

I’m an MD/PhD student (MD though the Harvard/MIT HST program and PhD in Bioinformatics & Integrative Genomics). I joined the Raychaudhuri Lab in the summer of 2019 and am currently working on developing computational methods to efficiently map single-cell RNA-seq datasets against multi-million-cell...