Publications

Our group publishes papers presenting new methodologies, describing the results of studies that use our software, and reviewing current topics in the field of Bioinformatics. Scroll down or click here for a complete list of papers produced by our lab. Since 2013, we write blog posts summarizing new research papers and review articles:

GWAS

Mouse Genetics

Population Structure

Review Articles

Publications

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2015

Baxter, Ruth M; Arboleda, Valerie A; Lee, Hane; Barseghyan, Hayk; Adam, Margaret P; Fechner, Patricia Y; Bargman, Renee; Keegan, Catherine; Travers, Sharon; Schelley, Susan; Hudgins, Louanne; Mathew, Revi P; Stalker, Heather J; Zori, Roberto; Gordon, Ora K; Ramos-Platt, Leigh; Pawlikowska-Haddal, Anna; Eskin, Ascia; Nelson, Stanley F; Délot, Emmanuèle; Vilain, Eric

Exome sequencing for the diagnosis of 46,XY disorders of sex development. Journal Article

J Clin Endocrinol Metab, 100 (2), pp. E333-44, 2015, ISSN: 1945-7197.

Abstract | Links | BibTeX | Tags: Disorders of sex development, exome sequencing

Brown, Robert; Lee, Hane; Eskin, Ascia; Kichaev, Gleb; Lohmueller, Kirk E; Reversade, Bruno; Nelson, Stanley F; Pasaniuc, Bogdan

Leveraging ancestry to improve causal variant identification in exome sequencing for monogenic disorders. Journal Article

Eur J Hum Genet, 24 (1), pp. 113-9, 2015, ISSN: 1476-5438.

Abstract | Links | BibTeX | Tags: Causal Inference, exome sequencing, monogenic disorders