5 research outputs found
Pan-cancer analysis of whole genomes
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- wi Futreal
- Wigle
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- Williams
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- Wintersinger
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- xo Abeshouse
- xp Benz
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- Yachida
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- Yao
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- yb Ally
- yd Cherniack
- yd Lai
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- Yellapantula
- Yellapantula
- yh Bathe
- yj Baylin
- Yoon
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- Yugawa
- z ah
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- Z. ep
- Z. fr
- Z. hv
- Z. hy
- Z. jq
- Z. kt
- Z. oe
- Zaikova
- Zapatka
- zd Gershenwald
- Zenklusen
- Zeps
- zf Ghossein
- Zhang
- Zhang
- Zhang
- Zhang
- Zhang
- Zhang
- Zhang H. b
- Zhao
- Zheng
- Zhou
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- Zhu
- Zhu
- zi zj
- zm Jayaseelan
- Zou
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- Publication venue
- Publication date
- 11/12/2019
- Field of study
Cancer is driven by genetic change, and the advent of massively parallel sequencing has enabled systematic documentation of this variation at the whole-genome scale(1-3). Here we report the integrative analysis of 2,658 whole-cancer genomes and their matching normal tissues across 38 tumour types from the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium of the International Cancer Genome Consortium (ICGC) and The Cancer Genome Atlas (TCGA). We describe the generation of the PCAWG resource, facilitated by international data sharing using compute clouds. On average, cancer genomes contained 4-5 driver mutations when combining coding and non-coding genomic elements; however, in around 5% of cases no drivers were identified, suggesting that cancer driver discovery is not yet complete. Chromothripsis, in which many clustered structural variants arise in a single catastrophic event, is frequently an early event in tumour evolution; in acral melanoma, for example, these events precede most somatic point mutations and affect several cancer-associated genes simultaneously. Cancers with abnormal telomere maintenance often originate from tissues with low replicative activity and show several mechanisms of preventing telomere attrition to critical levels. Common and rare germline variants affect patterns of somatic mutation, including point mutations, structural variants and somatic retrotransposition. A collection of papers from the PCAWG Consortium describes non-coding mutations that drive cancer beyond those in the TERT promoter(4); identifies new signatures of mutational processes that cause base substitutions, small insertions and deletions and structural variation(5,6); analyses timings and patterns of tumour evolution(7); describes the diverse transcriptional consequences of somatic mutation on splicing, expression levels, fusion genes and promoter activity(8,9); and evaluates a range of more-specialized features of cancer genomes(8,10-18).Peer reviewe
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- Weston H
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- Wienbrandt L
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- Wilding L
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- Wittig M
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- Wolford BN
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- Wyllie DH
- Wynter I
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- Xue X
- Yagi K
- Yamada M
- Yamada Y
- Yamagata K
- Yamasaki M
- Yang J
- Yaspan B
- Yassen AM
- Yasui Y
- Yates B
- Yatomi M
- Ye C
- Yermakovich D
- Yeung RSM
- Yi X
- Yonekawa A
- Yoo S
- Yoon K
- Yoshida K
- Yoshida S
- Yoshida S
- Yoshida T
- Yoshihara T
- Yoshiya K
- Yoshiyama T
- Young M
- Yue F
- Yun N
- Yáñez CE
- Yáñez Z
- Zainulabid UA
- Zainy T
- Zak A
- Zaki A
- Zamikula J
- Zamudio IPM
- Zanella A
- Zapata-Contreras D
- Zapatamartinez M
- Zarate R
- Zarei N
- Zavaleta DAF
- Zawadzki P
- Zawati MH
- Zborowski AC
- Zeberg H
- Zechner M
- Zhang Q
- Zhao X
- Zheng C
- Zheng T
- Zhlawi HJ
- Zhlawi MWJ
- Zholdybayeva E
- Zhou W
- Zhu W
- Zitter L
- Zoller H
- Zongo O
- Zorloni C
- Zuñiga-Pacheco P
- Zárate RN
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- Álvarez BG
- Ávila-Arcos MA
- Ávila-Arcos MC
- Özer O
- Überla K
- Þorsteinsdóttir U
- Publication venue
- Nature Research
- Publication date
- 21/06/2023
- Field of study
Mapping the human genetic architecture of COVID-19
- Author
- Abdelrazik M
- Abdullah T
- Abe R
- Abe S
- Abecasis GR
- Abel L
- Abernathy C
- Abraheem A
- Abul-Husn NS
- Acosta-Herrera M
- Acquilini D
- Acquilini D
- Adachi T
- Adachi Y
- Adams C
- Adams K
- Adanini O
- Adeleye O
- Adeniji K
- Adra D
- Afifi N
- Afilalo J
- Afilalo M
- Afolabi D
- Afrasiabi Z
- Afset JE
- Agasou A
- Aghemo A
- Agranoff D
- Agrawal S
- Aguirre LA
- Agwuh K
- Ahmad HF
- Ahmad N
- Ahmed A
- Ahmed C
- Ahmed KA
- Ai M
- Ail D
- Akeroyd L
- Akhtar MN
- Akhtar S
- Akinkugbe O
- Aksentijevich A
- Al Thani A
- Al-Muftah W
- Al-Sarraj Y
- Alarcon C
- Alarcon-Riquelme ME
- Alasdair F
- Alaverdian D
- Alavere H
- Albertos R
- Albillos A
- Albrecht W
- Albrich W
- Albrich WC
- Aldera EL
- Aldridge J
- Alegria A
- Alex B
- Alexander P
- Alfonso J
- Algera AG
- Ali A
- Ali IMA
- Ali S
- Aliberti S
- Allan A
- Allan E
- Allan J
- Alldis Z
- Allen L
- Allen S
- Allibone S
- Allison KS
- Allos R
- Ally SM
- Almaden-Boyle C
- Altabaibeh A
- Altmueller J
- Alvaro A
- Amar D
- Amin V
- Amitrano S
- Amiya S
- Ampuero J
- Anan R
- Anania S
- Anastasescu E
- Anderson F
- Anderson J
- Anderson M
- Anderson P
- Anderson S
- Anderson S
- Anderson T
- Ando A
- Andolfo I
- Andrade V
- Andretta F
- Andreucci E
- Andreucci E
- Andrew A
- Andrew B
- Andrew G
- Andrews E
- Andrews SJ
- Andrews SJ
- Andrews SJ
- Andrews SJ
- Andrikopoulos P
- Anedda F
- Aneli S
- Anemoli V
- Angelini C
- Angus B
- Annis A
- Antcliffe D
- Antinori A
- Antoni MD
- Anumakonda V
- Anwar M
- Anzai T
- Apetri E
- Arai D
- Arana E
- Arbane G
- Archer K
- Arciero E
- Arden T
- Arias SS
- Arif S
- Arimura K
- Armstrong J
- Armstrong JA
- Armstrong L
- Armstrong R
- Arning N
- Arnold S
- Arora J
- Artuso R
- Arumugam P
- Asakura T
- Asano K
- Aschard H
- Ascolillo S
- Ashish A
- Ashley E
- Ashraf S
- Ashraf S
- Ashton L
- Ashworth M
- Asiimwe IG
- Aslibekyan S
- Asselta R
- Atanasovska B
- Atkinson D
- Atkinson EG
- Attwood B
- Aucella F
- Augustin M
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- Auld F
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- Austin P
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- Awano N
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- Aziz F
- Azuma M
- Azuure C
- Azzolini E
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- Baba T
- Bach B
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- Badalamenti S
- Badia JR
- Badji RM
- Bahmer T
- Baikady RR
- Baillie JK
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- Bakthavatsalam D
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- Banales JM
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- Bandla N
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- Beckmann ND
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- Belagodu Z
- Belbin GM
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- Belhaj Y
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- Bellwood R
- Below JE
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- Beranova E
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- Bergantini L
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- Bergomi M
- Bergomi P
- Berkowitz N
- Bernardo D
- Bernasconi A
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- Berridge J
- Bertrand A
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- Bettini LR
- Beudel M
- Bevan E
- Bewley J
- Bhardwaj N
- Bhatia N
- Bhatterjee R
- Bhuie P
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- Bianco C
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- Biggs H
- Biondi A
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- Bird S
- Birkinshaw I
- Birney E
- Birt M
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- Black E
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- Blackledge B
- Blackledge B
- Blackman H
- Blakemore H
- Blanco-Grau A
- Blasi F
- Blay N
- Blay N
- Blow S
- Blunt M
- Boada M
- Board S
- Bocciardi R
- Bocciolone M
- Bochud M
- Bochud P-Y
- Bochud PY
- Bochud PY
- Bochud PY
- Bociek A
- Boer C
- Boezen M
- Bogaard HJ
- Bogaert D
- Boillat N
- Boillat-Blanco N
- Bokhari M
- Bolton M
- Bolton R
- Bolze A
- Bombace S
- Bomers M
- Bonfanti P
- Bonner S
- Bonta PI
- Booker L
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- Borislavova B
- Borra C
- Bos L
- Bosari S
- Bosio G
- Bosse Y
- Botello A
- Bothma P
- Botta G
- Botta M
- Boua PR
- Bouab M
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- Boughton AP
- Boujemla B
- Bouras K
- Boutros P
- Bouysran Y
- Bowes A
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- Boz C
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- Bradshaw Z
- Brady A
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- Brahier T
- Brandwood C
- Branney D
- Brantwood C
- Brassard N
- Braun A
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- Brayne A
- Brealey D
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- Breen G
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- Brennan B
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- Brenner T
- Bretherick AD
- Brett M
- Brett S
- Brickell K
- Bridgett V
- Brimfield L
- Brinkworth E
- Briton K
- Brittain-Long R
- Britvan B
- Bromley M
- Brooke H
- Brooks S
- Brouwer MC
- Brown A
- Brown A
- Brown A
- Brown CW
- Brown E
- Brown J
- Bruce M
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- Brunton M
- Brusco A
- Bruttini M
- Bryant J
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- Buckley C
- Buckley S
- Bugiani M
- Bujanda L
- Bulik CM
- Bulle E
- Bullock K
- Bulteel N
- Bunni L
- Burda D
- Burden T
- Burn I
- Burnett C
- Burns K
- Burt K
- Burtenshaw A
- Burtenshaw A
- Burton M
- Busani S
- Busson A
- Bussotti M
- Bustamante C
- Butcher D
- Buti M
- Butler A
- Butler S
- Butler-Laporte G
- Butler-Laporte G
- Butler-Laporte G
- Butler-Laporte G
- Butte MJ
- Butterworth AS
- Butterworth-Cowin N
- Button H
- Buxbaum JD
- Buxbaum JD
- Buxbaum JD
- Byun J
- Caba Llero-Garralda A
- Cabrelli L
- Caceres M
- Cadilla CL
- Cagova L
- Caldarelli GP
- Calderon EJ
- Callaghan M
- Callier S
- Camby S
- Cameli P
- Campbell A
- Campbell H
- Campbell R
- Campbell R
- Campos S
- Camsooksai J
- Canaccini A
- Canakoglu A
- Cantarini L
- Cantor MN
- Capasso M
- Capitani K
- Cappadona C
- Cappelli S
- Capps N
- Carbral-Ortega L
- Cardamone G
- Carella M
- Carey DJ
- Carli D
- Carlucci N
- Carmody M
- Carmody S
- Carnahan M
- Carnero-Montoro E
- Carrabba M
- Carracedo AD
- Carreras Nolla A
- Carreras A
- Carriero ML
- Carson G
- Carter A
- Carter E
- Carter J
- Carter S
- Carungcong J
- Caruth V
- Casey M
- Cass E
- Castano-Vinyals G
- Castelli F
- Castle K
- Castoldi M
- Castori M
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- Caswell M
- Catena E
- Caterson J
- Cathcart S
- Catlow L
- Catterall BWA
- Caulfield MJ
- Caulfield MJ
- Cavazza A
- Cawley K
- Cawthron K
- Cazzaniga M
- Cea C
- Cecconi M
- Ceri S
- Ceri S
- Ceriotti F
- Cerny A
- Cerrato L
- Chablani M
- Chadbourn I
- Chadwick D
- Chadwick D
- Chambler D
- Chan G
- Chan R
- Chand M
- Chandler B
- Chang D
- Chang TS
- Chang X
- Chang Y
- Chapman S
- Charles B
- Charlesworth R
- Charney AW
- Charnock R
- Chasse M
- Chassot J
- Chaudhary K
- Chavan S
- Chechi K
- Chee N
- Cheema Y
- Chen H-H
- Cheng N
- Cherian S
- Chernitsov A
- Cherubini A
- Chetam L
- Cheyne C
- Chiba S
- Chihara Y
- Child J
- Childs D
- Chittoor G
- Chiu A
- Cho JH
- Cho K
- Choe K-W
- Choi S
- Chouchane O
- Choudhury Y
- Chowdhury M
- Christle J
- Chubachi S
- Chueca N
- Chukkambotla S
- Chukkambotla S
- Chung R
- Chung W
- Churchhouse C
- Chwialkowska K
- Chwialkowska K
- Ciccarelli M
- Ciesek S
- Cirulli ET
- Claassen S
- Claire W
- Clamp S
- Clapham M
- Claringbould A
- Clarinval M
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- Clark JJ
- Clark M
- Clark M
- Clark R
- Clark R
- Clark S
- Clark T
- Clark V
- Clarke D
- Clarke EA
- Clarke N
- Clarkson M
- Clayton S
- Clement I
- Clements S
- Clerc O
- Cloherty A
- Clohisey S
- Clohisey S
- Clohisey S
- Clohisey S
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- Cockrell M
- Coetzee S
- Coghlan P
- Coignet M
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- Cole J
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- Cole S
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- Collins BL
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- Collins K
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- Colombo F
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- Conticini E
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- Cooke GS
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- Cordero AIH
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- Cordioli M
- Cordioli M
- Cordioli M
- Cordioli M
- Cordioli M
- Cornberg M
- Cornell S
- Cornely OA
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- Correia GDS
- Corridi M
- Cortes B
- Cortes B
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- Cosgrove D
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- Costantino G
- Cother N
- Coton Z
- Coulding M
- Coutts A
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- Coviello DA
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- Crisp N
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- Cutler S
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- D'Alessandro M
- D'Amato M
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- Da Gloria EF
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- Danesh J
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- Darwish D
- Dasgin J
- Daubney E
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- Daya M
- de Brabander J
- de Bree G
- de Bruin S
- de Cid R
- de Cid R
- de Geus EJC
- de Gordoa LO-R
- de Gordoa LO-R
- De Grandi A
- de Jong H
- de Jong MD
- De la Horra C
- De Neef M
- de Pablo R
- de Rojas I
- de Salazar A
- de Silva T
- De Vivo O
- De Vivo O
- de Vries H
- Deacon B
- Deacon B
- Dearden J
- Death Y
- Deboever C
- Debreceni G
- Deelen P
- Deelen P
- Deery J
- Degenhardt F
- Dei S
- Dela Rosa A
- Delaneau O
- Delgado CC
- Delgado J
- Della Monica M
- Dellot P
- Deloukas P
- Demetriou C
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- Dent K
- Dent M
- Depante M
- Dervisevic S
- Desanctis E
- Desgranges F
- deSouza F
- Di Angelantonio E
- di Bartolomeo C
- Di Biagio A
- Di Domenico P
- Di Pietro M
- Di Sarno L
- Di Valentin E
- Digby B
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- Dodds S
- Domingues F
- Donaldson A
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- Dongelmans D
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- Donne B
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- Donohue C
- Dooks E
- Doonan R
- Dopazo X
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- Dudman S
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- Dumas M-E
- Duncan E
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- Dunham I
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- Dunn C
- Dunning J
- DuRand I
- Durand M
- Durga L
- Durham C
- Durie A
- Durrans LJ
- Durrant G
- Dushianthan A
- Duskova M
- Dutta AK
- Dutta AK
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- Dyer P
- Dyer T
- Dykes J
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- Eapen B
- Earle SG
- Eastgate-Jackson C
- Easthope A
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- Enomoto T
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- Espana PP
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- Eziefula C
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- Farquhar F
- Farre X
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- Farzad Z
- Faucon A
- Faucon AB
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- Fava F
- Fave M-J
- Faverio P
- Fawkes A
- Fazaal J
- Fearby M
- Febbo P
- Fegan C
- Feldt T
- Felton T
- Feng Y-CA
- Ferguson S
- Feri M
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- Fernandes R
- Fernandez J
- Fernandez Z
- Fernandez-Cadenas I
- Fernandez-Cadenas I
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- Fernandez-Roman J
- Ferrando C
- Ferreira MAR
- Ferrer R
- Ferrero GB
- Ferri C
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- Ferwerda B
- FHoGID
- Fidler K
- Filipe ADS
- Filipe H
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- Foco L
- Fofano A
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- Zoller H
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- zu Bentrup FM
- Zucchi P
- Zwinderman AHK
- Zyndorf M
- Publication venue
- Publication date
- 01/01/2021
- Field of study
The genetic make-up of an individual contributes to the susceptibility and response to viral infection. Although environmental, clinical and social factors have a role in the chance of exposure to SARS-CoV-2 and the severity of COVID-191,2, host genetics may also be important. Identifying host-specific genetic factors may reveal biological mechanisms of therapeutic relevance and clarify causal relationships of modifiable environmental risk factors for SARS-CoV-2 infection and outcomes. We formed a global network of researchers to investigate the role of human genetics in SARS-CoV-2 infection and COVID-19 severity. Here we describe the results of three genome-wide association meta-analyses that consist of up to 49,562 patients with COVID-19 from 46 studies across 19 countries. We report 13 genome-wide significant loci that are associated with SARS-CoV-2 infection or severe manifestations of COVID-19. Several of these loci correspond to previously documented associations to lung or autoimmune and inflammatory diseases3,4,5,6,7. They also represent potentially actionable mechanisms in response to infection. Mendelian randomization analyses support a causal role for smoking and body-mass index for severe COVID-19 although not for type II diabetes. The identification of novel host genetic factors associated with COVID-19 was made possible by the community of human genetics researchers coming together to prioritize the sharing of data, results, resources and analytical frameworks. This working model of international collaboration underscores what is possible for future genetic discoveries in emerging pandemics, or indeed for any complex human disease
Guidelines for the use and interpretation of assays for monitoring autophagy (3rd edition).
- Author
- Abdelmohsen K
- Abe A
- Abedin MJ
- Abeliovich H
- Acevedo Arozena A
- Adachi H
- Adams CM
- Adams PD
- Adeli K
- Adhihetty PJ
- Adler SG
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- Aguilar PV
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- Airoldi EM
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- Akematsu T
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- Albaiceta GM
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