# Transcriptome and genome sequencing uncovers functional variation in humans

**Type:** Papers  
**Canonical URL:** https://scholariq.org/papers/transcriptome-and-genome-sequencing-uncovers-functional-variation-in-humans/

## Facts

| Field | Value |
| --- | --- |
| Author Names | Tuuli Lappalainen,Michael Sammeth,Marc R. Friedländer,Peter A.C. ’t Hoen,Jean Monlong,Manuel A. Rivas,Mar Gonzàlez-Porta,Natalja Kurbatova,Thasso Griebel,Pedro G. Ferreira,Matthias Barann,Thomas Wieland,Liliana Greger,Maarten van Iterson,Jonas Carlsson Almlöf,Paolo Ribeca,Irina Pulyakhina,Daniela Esser,Thomas Giger,Andrew Tikhonov,Marc Sultan,Gabrielle Bertier,Daniel G. MacArthur,Monkol Lek,Esther Lizano,Henk P.J. Buermans,Ismaël Padioleau,Thomas Schwarzmayr,Olof Karlberg,Halit Ongen,Helena Kilpinen,Sergi Beltrán,Marta Gut,Katja Kahlem,Vyacheslav Amstislavskiy,Oliver Stegle,Matti Pirinen,Stephen B. Montgomery,Peter Donnelly,Mark I. McCarthy,Paul Flicek,Tim M. Strom,Hans Lehrach,Stefan Schreiber,Ralf Sudbrak,Ángel Carracedo,Stylianos E. Antonarakis,Robert Häsler,Ann‐Christine Syvänen,Gert‐Jan B. van Ommen,Alvis Brāzma,Thomas Meitinger,Philip Rosenstiel,Roderic Guigó,Marta Gut,Xavier Estivill,Emmanouil T. Dermitzakis |
| Citations | 2,195 |
| DOI | 10.1038/nature12531 |
| Fields | Biochemistry, Genetics and Molecular Biology |
| Open Access | true |
| OA Status | green |
| OA URL | http://nrs.harvard.edu/urn-3:HUL.InstRepos:12064518 |
| OpenAlex ID | https://openalex.org/W2025943989 |
| PMID | 24037378 |
| Type | article |
| Year | 2013 |

## Paper authors

- [Tim M. Strom](https://scholariq.org/researchers/tim-m-strom/)
- [Thomas Meitinger](https://scholariq.org/researchers/thomas-meitinger/)

## Paper journal

- [Nature](https://scholariq.org/journals/nature/)

## Paper primary topic

- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)

## Paper topics

- [RNA Research and Splicing](https://scholariq.org/topics/rna-research-and-splicing/)
- [RNA modifications and cancer](https://scholariq.org/topics/rna-modifications-and-cancer/)
- [Genetic Associations and Epidemiology](https://scholariq.org/topics/genetic-associations-and-epidemiology/)

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Source: ScholarIQ — public research metadata, principally OpenAlex. See https://scholariq.org/sources/ for provenance and https://scholariq.org/methodology/ for what these figures mean.