71 research outputs found
Cis and Trans Effects of Human Genomic Variants on Gene Expression
- Author
- A Boyd
- AC Nica
- AC Nica
- AH Talukder
- Alfonso Buil
- AR Wood
- AS Dimas
- BE Stranger
- BE Stranger
- BU Schraml
- C Wallace
- Christopher David Brown
- David M. Evans
- DF Conrad
- DJ Gaffney
- DL Nicolae
- DM Greenawalt
- Donald F. Conrad
- E Grundberg
- E Klopocki
- EE Schadt
- Emmanouil T. Dermitzakis
- George Davey Smith
- GR Abecasis
- H Huang
- HJ Westra
- J Ding
- J Millstein
- J Zhu
- JD Storey
- JE Powell
- JK Pickrell
- John P. Kemp
- Julien Bryois
- K Hildner
- Karen M. Ho
- LA Hindorff
- M Gutierrez-Arcelus
- M Scutari
- Matthew Hurles
- ND Miller
- NL Barbosa-Morais
- Panos Deloukas
- RW Jones
- SB Montgomery
- SB Montgomery
- SJ Loughran
- Stephen B. Montgomery
- Susan Ring
- T Lappalainen
- TR Insel
- W Wang
- Y Li
- Y Li
- Publication venue
- 'Public Library of Science (PLoS)'
- Publication date
- 01/01/2014
- Field of study
This work was funded by the Louis-Jeantet Foundation (http://www.jeantet.ch/), the European Research Council (Grant ID: 260927 http://erc.europa.eu/), the Swiss National Foundation (Grant ID: 130342 http://www.snf.ch), NCCR Frontiers In Genetics (http://www.frontiers-in-genetics.org), the UK Medical Research Council (http://www.mrc.ac.uk) and the Wellcome Trust (Grant ID: 092731).
Detrimental effects of duplicate reads and low complexity regions on RNA- and ChIP-seq data
- Author
- AM Bolger
- B Langmead
- B Li
- C Del Fabbro
- C Trapnell
- Christopher J Lessard
- Cory B Giles
- Courtney Montgomery
- D Chung
- Edmund Glass
- ES Lander
- GR Abecasis
- H Lee
- H Li
- HJ Abel
- Indra Adrianto
- J Feng
- J Huddleston
- J Majewski
- JK Pickrell
- Jonathan D Wren
- Kathy L Sivils
- KR Rosenbloom
- LE Olson
- Lorin E Olson
- MA DePristo
- MA DePristo
- Mikhail G Dozmorov
- MJ Hangauer
- N Chen
- P Machanick
- P Medvedev
- P Walsh
- R Schmieder
- RDC Team
- S Howorka
- S Turner
- Stuart B Glenn
- Tomoaki Iwayama
- TS Furey
- VV Kapitonov
- W Zhou
- Willard M Freeman
- Y Chen
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
DIVAN: accurate identification of non-coding disease-specific risk variants using multi-omics profiles
- Author
- A Barski
- A Kundaje
- A Siepel
- AP Boyle
- CL Lorson
- DS Johnson
- F Zhang
- G Robertson
- GE Crawford
- GM Cooper
- GR Abecasis
- GR Ritchie
- H Chen
- I Dunham
- I Ionita-Laza
- J Friedman
- JD Eicher
- JF Caceres
- JK Pickrell
- K Lund
- L Breiman
- L Chen
- LD Ward
- Li Chen
- M Kircher
- MD Ritchie
- MJ Landrum
- MT Maurano
- N Lopez-Bigas
- NA Faustino
- P Wen
- PD Stenson
- Peng Jin
- PG Giresi
- Q Lu
- S Barbaux
- SA Forbes
- SE Flanagan
- T Hubbard
- YG Tak
- Z-H Zhou
- Zhaohui S. Qin
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Signatures of mutational processes in human cancer.
- Author
- A Koito
- A Tomita-Mitchell
- Adam P. Butler
- Ake Borg
- AM Dulak
- Andrea L. Richardson
- Andrew N. J. Tutt
- Andrew V. Biankin
- Angelo Paradiso
- Anne Vincent-Salomon
- Anne-Lise Børresen-Dale
- Barbara Hutter
- Birgit Burkhardt
- C Hunter
- C Love
- Carlos Caldas
- Carlos López-Otín
- CE Barbieri
- Christine Desmedt
- CM Rudin
- CR Boland
- CS Grasso
- David C. Wedge
- David Jones
- David T. W. Jones
- Douglas A. Levine
- E Hodis
- Elli Papaemmanuil
- Elías Campo
- Fumie Hosoda
- G Guo
- GP Pfeifer
- GP Pfeifer
- GP Pfeifer
- GP Pfeifer
- GR Abecasis
- Graham R. Bignell
- Helen R. Davies
- Hiromi Nakamura
- J Peña-Diaz
- J Wu
- J Zhang
- J Zhang
- Jessica Zucman-Rossi
- JK Pickrell
- JM Di Noia
- John A. Foekens
- John V. Pearson
- Jon W. Teague
- JS Seo
- JS Welch
- Julia Richter
- Jórunn Erla Eyfjörd
- K De Keersmaecker
- K Wang
- Keiran Raine
- L Ding
- L Ding
- L Holmfeldt
- Laura van ’t Veer
- LB Alexandrov
- LH Thompson
- LO Baumbusch
- Lucy R. Yates
- Ludmil B. Alexandrov
- M Imielinski
- M Olivier
- M Peifer
- M Sausen
- Manasa Ramakrishna
- Marcel Kool
- Marcin Imielinski
- Marina Pajic
- Marit M. van Buuren
- Matthew Meyerson
- Matthias Schlesner
- MB Burns
- Mel Greaves
- MF Berger
- MF Berger
- Michael R. Stratton
- MR Stratton
- MS Lawrence
- MS Stark
- N Agrawal
- N Stransky
- Natalie Jäger
- Niccolò Bolli
- Nicola Waddell
- Nikhil C. Munshi
- P. Andrew Futreal
- Paul A. Northcott
- Paul N. Span
- PC Hanawalt
- Peter J. Campbell
- Peter Lichter
- Philip Rosenstiel
- PJ Stephens
- Rafael Valdés-Mas
- RD Morin
- Reiner Siebert
- Roland Eils
- RS Harris
- S Jones
- S Nik-Zainal
- S Nik-Zainal
- S Peña-Llopis
- S Seshagiri
- Sam Behjati
- Samuel A. J. R. Aparicio
- Sancha Martin
- Sandrine Boyault
- Sandrine Imbeaud
- Sean M. Grimmond
- Serena Nik-Zainal
- ST Sherry
- Stefan M. Pfister
- Stian Knappskog
- Sunil R. Lakhani
- Tatsuhiro Shibata
- The Cancer Genome Atlas Network
- TJ Hudson
- TJ Pugh
- Tomislav Ilicic
- Ton N. Schumacher
- Ultan McDermott
- V Quesada
- W Fu
- Xose S. Puente
- XS Puente
- Y Jiao
- Yasushi Totoki
- ZJ Zang
- Publication venue
- Nature
- Publication date
- 01/01/2013
- Field of study
All cancers are caused by somatic mutations; however, understanding of the biological processes generating these mutations is limited. The catalogue of somatic mutations from a cancer genome bears the signatures of the mutational processes that have been operative. Here we analysed 4,938,362 mutations from 7,042 cancers and extracted more than 20 distinct mutational signatures. Some are present in many cancer types, notably a signature attributed to the APOBEC family of cytidine deaminases, whereas others are confined to a single cancer class. Certain signatures are associated with age of the patient at cancer diagnosis, known mutagenic exposures or defects in DNA maintenance, but many are of cryptic origin. In addition to these genome-wide mutational signatures, hypermutation localized to small genomic regions, 'kataegis', is found in many cancer types. The results reveal the diversity of mutational processes underlying the development of cancer, with potential implications for understanding of cancer aetiology, prevention and therapy
Identification of 55,000 Replicated DNA Methylation QTL
- Author
- A Morris
- A Portela
- AE Locke
- AF McRae
- AK Smith
- AL Teh
- AW Drong
- B Howie
- B Howie
- Brendan K Bulik-Sullivan
- C Martin-Ruiz
- CA Rietveld
- DJ Gaffney
- E Grundberg
- E Hannon
- EM Price
- F Hormozdiari
- G Kichaev
- G Quon
- GR Abecasis
- H Fraser
- H Schunkert
- HK Finucane
- IJ Deary
- IJ Deary
- IJ Deary
- J Yang
- J Yang
- J Yang
- JB Maller
- JE Powell
- JK Pickrell
- JR Gibbs
- JR Wagner
- JT Bell
- K Wang
- KR Eijk van
- L Gordon
- L Jostins
- LL Faye
- LM Houlihan
- M Jinek
- M Lemire
- MP Boks
- NE Banovich
- O Delaneau
- O Delaneau
- P Volkov
- S Purcell
- S Shah
- SA Miller
- SE Medland
- The Psychiatric Genomics Consortium
- TR Gaunt
- Y Bergman
- ZA Kaminsky
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- 01/12/2018
- Field of study
DNA methylation plays an important role in the regulation of transcription. Genetic control of DNA methylation is a potential candidate for explaining the many identified SNP associations with disease that are not found in coding regions. We replicated 52,916 cis and 2,025 trans DNA methylation quantitative trait loci (mQTL) using methylation from whole blood measured on Illumina HumanMethylation450 arrays in the Brisbane Systems Genetics Study (n = 614 from 177 families) and the Lothian Birth Cohorts of 1921 and 1936 (combined n = 1366). The trans mQTL SNPs were found to be over-represented in 1 Mbp subtelomeric regions, and on chromosomes 16 and 19. There was a significant increase in trans mQTL DNA methylation sites in upstream and 5' UTR regions. The genetic heritability of a number of complex traits and diseases was partitioned into components due to mQTL and the remainder of the genome. Significant enrichment was observed for height (p = 2.1 × 10), ulcerative colitis (p = 2 × 10), Crohn's disease (p = 6 × 10) and coronary artery disease (p = 5.5 × 10) when compared to a random sample of SNPs with matched minor allele frequency, although this enrichment is explained by the genomic location of the mQTL SNPs
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition)1.
- Author
- Abdel-Aziz AK
- Abdelfatah S
- Abdellatif M
- Abdoli A
- Abel S
- Abeliovich H
- Abildgaard MH
- Abudu YP
- Acevedo-Arozena A
- Adamopoulos IE
- Adeli K
- Adolph TE
- Adornetto A
- Aflaki E
- Agam G
- Agarwal A
- Aggarwal BB
- Agnello M
- Agostinis P
- Agrewala JN
- Agrotis A
- Aguilar PV
- Ahmad ST
- Ahmed ZM
- Ahumada-Castro U
- Aits S
- Aizawa S
- Akkoc Y
- Akoumianaki T
- Akpinar HA
- Al-Abd AM
- Al-Akra L
- Al-Gharaibeh A
- Alaoui-Jamali MA
- Alberti S
- Alcocer-Gómez E
- Alessandri C
- Ali M
- Alim Al-Bari MA
- Aliwaini S
- Alizadeh J
- Almacellas E
- Almasan A
- Alonso A
- Alonso GD
- Altan-Bonnet N
- Altieri DC
- Alves da Costa C
- Alves S
- Alzaharna MM
- Amadio M
- Amantini C
- Amaral C
- Ambrosio S
- Amer AO
- Ammanathan V
- An Z
- Andersen SU
- Andrabi SA
- Andrade-Silva M
- Andres AM
- Angelini S
- Ann D
- Anozie UC
- Ansari MY
- Antas P
- Antebi A
- Antón Z
- Anwar T
- Apetoh L
- Apostolova N
- Araki T
- Araki Y
- Arasaki K
- Araya J
- Araújo WL
- Arden C
- Arguelles S
- Arias E
- Arikkath J
- Arimoto H
- Ariosa AR
- Armstrong-James D
- Arnauné-Pelloquin L
- Aroca A
- Arroyo DS
- Arsov I
- Artero R
- Arévalo M-A
- Asaro DML
- Aschner M
- Ashrafizadeh M
- Ashur-Fabian O
- Atanasov AG
- Au AK
- Auberger P
- Auner HW
- Aurelian L
- Autelli R
- Avagliano L
- Aveic S
- Aveleira CA
- Avin-Wittenberg T
- Aydin Y
- Ayton S
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- Azzopardi M
- Baba M
- Backer JM
- Backues SK
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- Baehrecke EH
- Baek A
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- Bairagi N
- Baksi S
- Balazadeh S
- Balbi T
- Baldari CT
- Balduini W
- Ballabio A
- Ballester M
- Balzan R
- Bandopadhyay R
- Banerjee S
- Banerjee S
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- Baptista MS
- Baracca A
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- Barlow PG
- Barmada SJ
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- Wu A-G
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- Yakhine-Diop SMS
- Yamaguchi M
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- Yazdankhah M
- Yen PM
- Yi C
- Yi-Ren Hong C-WH
- Yin X-M
- Yin Y
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- Yip CK
- Yiu SPT
- Yoo YH
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- Yousefi B
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- Yung RL
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- Zaffagnini G
- Zambelli VO
- Zanella I
- Zang QS
- Zanivan S
- Zappavigna S
- Zaragoza P
- Zarbalis KS
- Zarebkohan A
- Zarrouk A
- Zeitlin SO
- Zeng J
- Zeng J-D
- Zhan L
- Zhang B
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- Zhang J-P
- Zhang KYB
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- Zhang W
- Zhang X
- Zhang X
- Zhang X
- Zhang X
- Zhang X
- Zhang X-W
- Zhang XD
- Zhang Y
- Zhang Y
- Zhang Y
- Zhang Y
- Zhang Y
- Zhang Y-D
- Zhang Y-Y
- Zhang Z
- Zhang Z
- Zhang Z
- Zhang Z
- Zhang Z
- Zhang Z
- Zhao H
- Zhao L
- Zhao S
- Zhao T
- Zhao X-F
- Zhao Y
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- Zheng G
- Zheng K
- Zheng L
- Zheng S
- Zheng X-L
- Zheng Y
- Zheng Z-G
- Zhivotovsky B
- Zhong Q
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- Zhou J
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- Zhou K
- Zhou R
- Zhou X-J
- Zhou Y
- Zhou Y
- Zhou Y
- Zhou Z
- Zhou Z-Y
- Zhu B
- Zhu C
- Zhu G-Q
- Zhu H
- Zhu H
- Zhu H
- Zhu W-G
- Zhu Y
- Zhu Y
- Zhuang H
- Zhuang X
- Zientara-Rytter K
- Zimmermann CM
- Ziviani E
- Zoladek T
- Zong W-X
- Zorov DB
- Zorzano A
- Zou W
- Zou Z
- Zou Z
- Zuryn S
- Zwerschke W
- Álvarez ÉMC
- Ávalos Y
- Önal G
- Üstün S
- Čolić M
- Đokić J
- Žerovnik E
- Publication venue
- 'Informa UK Limited'
- Publication date
- 01/01/2021
- Field of study
In 2008, we published the first set of guidelines for standardizing research in autophagy. Since then, this topic has received increasing attention, and many scientists have entered the field. Our knowledge base and relevant new technologies have also been expanding. Thus, it is important to formulate on a regular basis updated guidelines for monitoring autophagy in different organisms. Despite numerous reviews, there continues to be confusion regarding acceptable methods to evaluate autophagy, especially in multicellular eukaryotes. Here, we present a set of guidelines for investigators to select and interpret methods to examine autophagy and related processes, and for reviewers to provide realistic and reasonable critiques of reports that are focused on these processes. These guidelines are not meant to be a dogmatic set of rules, because the appropriateness of any assay largely depends on the question being asked and the system being used. Moreover, no individual assay is perfect for every situation, calling for the use of multiple techniques to properly monitor autophagy in each experimental setting. Finally, several core components of the autophagy machinery have been implicated in distinct autophagic processes (canonical and noncanonical autophagy), implying that genetic approaches to block autophagy should rely on targeting two or more autophagy-related genes that ideally participate in distinct steps of the pathway. Along similar lines, because multiple proteins involved in autophagy also regulate other cellular pathways including apoptosis, not all of them can be used as a specific marker for bona fide autophagic responses. Here, we critically discuss current methods of assessing autophagy and the information they can, or cannot, provide. Our ultimate goal is to encourage intellectual and technical innovation in the field
Frequency of intron loss correlates with processed pseudogene abundance: a novel strategy to test the reverse transcriptase model of intron loss
- Author
- A Farlow
- A Farlow
- A Llopart
- A Pavlicek
- A Sakurai
- AL Feiber
- AV Sverdlov
- C Esnault
- C Seoighe
- C Shee
- CB Nielsen
- CC Friedel
- CH Slamovits
- CI Castillo-Davis
- D-K Niu
- DC Jeffares
- Deng-Ke Niu
- DG Knowles
- DJ Finnegan
- DK Niu
- F Denoeud
- F Rodriguez-Trelles
- F Sievers
- G Bourque
- GR Fink
- H Kaessmann
- H Lin
- HD Nguyen
- I Goncalves
- I Rogozin
- IB Rogozin
- J Coulombe-Huntington
- J Coulombe-Huntington
- JA Fawcett
- JE Karro
- JE Stajich
- JK Pickrell
- K Kiontke
- K Lin
- L Carmel
- L Carmel
- L Carmel
- L McDonell
- LK Derr
- LK Derr
- LY Zhang
- M Csuros
- M Fablet
- M Lynch
- M-P Ng
- MA Larkin
- MJ Lippert
- N Kim
- NE Cohen
- O Podlaha
- P Yenerall
- S Balasubramanian
- S Cho
- SW Li
- SW Roy
- SW Roy
- SW Roy
- SW Roy
- SW Roy
- SW Roy
- SW Roy
- T Mourier
- T Takahashi
- Tao Zhu
- TH Eickbush
- TJ Sharpton
- Y-F Huang
- Y-H Loh
- ZL Zhang
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Natural selection on HFE in Asian populations contributes to enhanced non-heme iron absorption
- Author
- BE Stranger
- BF Voight
- BS Skikne
- C Toomajian
- C Toomajian
- CC Babbitt
- Chang Cao
- D Hare
- DF Bauer
- DM Altshuler
- ED Weinberg
- F Luca
- G Dallalio
- G Lucotte
- G Ma
- GH Perry
- GR Abecasis
- GTEx Consortium
- H Li
- HJ Bandelt
- Institute of Medicine
- J Gao
- J Mason
- J Monlong
- JJ Vitti
- JK Pickrell
- JN Feder
- JR Hunt
- JR Hunt
- JW Lee
- K Ye
- Kaixiong Ye
- Kimberly O O’Brien
- KO O’Brien
- L Sun
- L Sun
- L Tussing-Humphreys
- L Viatte
- LR Zacharski
- M Munoz
- M Munoz
- M Pybus
- M Vujic Spasic
- MA Roe
- MA Roe
- MB Zimmermann
- MB Zimmermann
- MB Zimmermann
- MF Young
- MF Young
- MT Dorak
- O Han
- P Harst van der
- P Kastenmayer
- Q Liu
- R Collings
- R Core Team
- R Leslie
- RE Graff
- RT Acton
- S Distante
- S Moalem
- SA Abrams
- SA Tishkoff
- SH Williamson
- SJ Fairweather-Tait
- SJ Fretham
- SK Ganesh
- SR Grossman
- SV Torti
- T Brownlie
- TA Rouault
- UNSCN
- Xu Lin
- Y Peng
- Zhenglong Gu
- Publication venue
- 'Springer Science and Business Media LLC'
- Publication date
- Field of study
Understanding rare and common diseases in the context of human evolution
- Author
- 1000 Genomes Project Consortium
- A Alcais
- A Battle
- A Bigham
- A Coventry
- A Eyre-Walker
- A Eyre-Walker
- A Eyre-Walker
- A Ferrer-Admetlla
- A Keinan
- A Ranciaro
- A Rienzo Di
- A Zhernakova
- AC Allison
- AL Hughes
- AM Andres
- AM Andres
- AM Hancock
- AM Hancock
- AR Boyko
- B Georgi
- B Vernot
- B Vernot
- B Vernot
- BF Voight
- BJ Crespi
- BM Henn
- BM Henn
- BM Henn
- BM Peter
- BS Weir
- C Dong
- C Jeong
- C Jeong
- C Louicharoen
- CD Bustamante
- CN Simonti
- CS Carlson
- CT Miller
- D Charlesworth
- D Reich
- D Reich
- DB Goldstein
- DE Reich
- DG Torgerson
- DP Kwiatkowski
- E Corona
- E Huerta-Sanchez
- E Vasseur
- EJ Hollox
- EK Karlsson
- EK Karlsson
- EM Leffler
- ET Lim
- F Broushaki
- F Casals
- F Prugnolle
- F Racimo
- FL Mendez
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- FL Mendez
- FM Key
- FM Key
- G Alkorta-Aranburu
- G Coop
- G Gibson
- G Wlasiuk
- GM Cooper
- GR Abecasis
- GT Marth
- GV Kryukov
- H Akashi
- H Chen
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- HB Fraser
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- IK Jordan
- J Kelso
- J Klein
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- K Prufer
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- L Abi-Rached
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- LH Uricchio
- Lluis Quintana-Murci
- M Dannemann
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- M Fumagalli
- M Fumagalli
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- ME Allentoft
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- P Kumar
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- RD Hernandez
- RE Green
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- RM Single
- RN Gutenkunst
- S Beleza
- S Boisson-Dupuis
- S Gravel
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- S Klopfstein
- S Mukherjee
- S Nakagome
- S Peischl
- S Sankararaman
- S Sankararaman
- S Vattathil
- SA Tishkoff
- SH Williamson
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- SR Grossman
- T Bersaglieri
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- W Bodmer
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Multiple parotid calculi: a rare case presentation
- Author
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- 'Medknow'
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- Field of study
- …