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Method

Identification of pathogenic variant enriched regions across genes and gene families

Eduardo Pérez-Palma
Patrick May
Sumaiya Iqbal
Lisa-Marie Niestroj
Juanjiangmeng Du
Henrike O. Heyne Jessica A. Castrillon Anne O'Donnell-Luria
... [+3 authors] ...,
Peter Nürnberg
Aarno Palotie
Mark Daly
Dennis Lal

First Published December 23, 2019

Method

Combining RT-PCR-seq and RNA-seq to catalog all genic elements encoded in the human genome

Cédric Howald
Andrea Tanzer
Jacqueline Chrast
Felix Kokocinski
Thomas Derrien
Nathalie Walters Jose M. Gonzalez Adam Frankish Bronwen L. Aken Thibaut Hourlier Jan-Hinnerk Vogel Simon White Stephen Searle
... [+8 authors] ...,
Jennifer Harrow
Tim J. Hubbard
Roderic Guigó
Alexandre Reymond

First Published September 5, 2012

Method

Estimation of alternative splicing variability in human populations

Mar Gonzàlez-Porta
Miquel Calvo
Michael Sammeth
Roderic Guigó

First Published November 23, 2011