Publications

Selected Publications

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Ferraro, Nicole M; Strober, Benjamin J; Einson, Jonah; Abell, Nathan S; Aguet, Francois; Barbeira, Alvaro N; Brandt, Margot; Bucan, Maja; Castel, Stephane E; Davis, Joe R; others,

Transcriptomic signatures across human tissues identify functional rare genetic variation Journal Article

In: Science, 369 (6509), 2020.

Links | BibTeX | Tags: allele-specific expression, allelic expression, alternative splicing, gene expression, genome, GTEx, precision genomics, rare genetic variants, structural variants, transcriptome, Watershed

Yahi, A; Hoffman, P; Brandt, M; Mohammadi, P; Tatonetti, NP; Lappalainen, T

EdiTyper: a high-throughput tool for analysis of targeted sequencing data from genome editing experiments Journal Article

In: bioRxiv, 2020.

Links | BibTeX | Tags: genome, targeted sequencing

Castel, Stephane E; Levy-Moonshine, Ami; Mohammadi, Pejman; Banks, Eric; Lappalainen, Tuuli

Tools and best practices for data processing in allelic expression analysis Journal Article

In: Genome Biology, 16 (1), pp. 195, 2015.

Links | BibTeX | Tags: allelic expression, cis-regulatory variation, genome, genotype, nonsense-mediated decay, RNA-seq reads, transcriptome

Rausell, Antonio; Mohammadi, Pejman; McLaren, Paul J; Bartha, Istvan; Xenarios, Ioannis; Fellay, Jacques; Telenti, Amalio

Analysis of stop-gain and frameshift variants in human innate immunity genes Journal Article

In: PLoS Computational Biology, 10 (7), pp. e1003757, 2014.

Links | BibTeX | Tags: gene expression, genome, loss-of-function, nonsense-mediated decay, OMIM