Mar Gonzàlez-Porta

Transcriptome and genome sequencing uncovers functional variation in humans

Tuuli Lappalainen, Michael Sammeth, Marc R. Friedländer et al. · Nature · 2013 · 2.2K citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

Best practices for benchmarking germline small-variant calls in human genomes

Peter Krusche, Len Trigg, Paul C. Boutros et al. · Nature Biotechnology · 2019 · 503 citations · Full text

Life Sciences, Bioinformatics, Genetics +16

Expression Atlas update—a database of gene and transcript expression from microarray- and sequencing-based functional genomics experiments

Robert Petryszak, Tony Burdett, Benedetto Fiorelli et al. · Nucleic Acids Research · 2013 · 386 citations · Full text

Life Sciences, Bioinformatics, Molecular Biology +17

Effect of predicted protein-truncating genetic variants on the human transcriptome

Manuel A. Rivas, Matti Pirinen, Donald F. Conrad et al. · Science · 2015 · 345 citations · Full text

Life Sciences, Genetics, Molecular Biology +17

Transcriptome analysis of human tissues and cell lines reveals one dominant transcript per gene

Mar Gonzàlez-Porta, Adam Frankish, Johan Rung et al. · Genome biology · 2013 · 285 citations · Full text

Life Sciences, Molecular Biology, Gene Expression +8