358 related articles for article (PubMed ID: 32460305)
1. Mapping and characterization of structural variation in 17,795 human genomes.
Abel HJ; Larson DE; Regier AA; Chiang C; Das I; Kanchi KL; Layer RM; Neale BM; Salerno WJ; Reeves C; Buyske S; ; Matise TC; Muzny DM; Zody MC; Lander ES; Dutcher SK; Stitziel NO; Hall IM
Nature; 2020 Jul; 583(7814):83-89. PubMed ID: 32460305
[TBL] [Abstract][Full Text] [Related]
2. A structural variation reference for medical and population genetics.
Collins RL; Brand H; Karczewski KJ; Zhao X; Alföldi J; Francioli LC; Khera AV; Lowther C; Gauthier LD; Wang H; Watts NA; Solomonson M; O'Donnell-Luria A; Baumann A; Munshi R; Walker M; Whelan CW; Huang Y; Brookings T; Sharpe T; Stone MR; Valkanas E; Fu J; Tiao G; Laricchia KM; Ruano-Rubio V; Stevens C; Gupta N; Cusick C; Margolin L; ; ; Taylor KD; Lin HJ; Rich SS; Post WS; Chen YI; Rotter JI; Nusbaum C; Philippakis A; Lander E; Gabriel S; Neale BM; Kathiresan S; Daly MJ; Banks E; MacArthur DG; Talkowski ME
Nature; 2020 May; 581(7809):444-451. PubMed ID: 32461652
[TBL] [Abstract][Full Text] [Related]
3. An integrated map of genetic variation from 1,092 human genomes.
; Abecasis GR; Auton A; Brooks LD; DePristo MA; Durbin RM; Handsaker RE; Kang HM; Marth GT; McVean GA
Nature; 2012 Nov; 491(7422):56-65. PubMed ID: 23128226
[TBL] [Abstract][Full Text] [Related]
4. Deep sequencing of Danish Holstein dairy cattle for variant detection and insight into potential loss-of-function variants in protein coding genes.
Das A; Panitz F; Gregersen VR; Bendixen C; Holm LE
BMC Genomics; 2015 Dec; 16():1043. PubMed ID: 26645365
[TBL] [Abstract][Full Text] [Related]
5. svtools: population-scale analysis of structural variation.
Larson DE; Abel HJ; Chiang C; Badve A; Das I; Eldred JM; Layer RM; Hall IM
Bioinformatics; 2019 Nov; 35(22):4782-4787. PubMed ID: 31218349
[TBL] [Abstract][Full Text] [Related]
6. Deep whole-genome sequencing of 90 Han Chinese genomes.
Lan T; Lin H; Zhu W; Laurent TCAM; Yang M; Liu X; Wang J; Wang J; Yang H; Xu X; Guo X
Gigascience; 2017 Sep; 6(9):1-7. PubMed ID: 28938720
[TBL] [Abstract][Full Text] [Related]
7. Rare and common regulatory variation in population-scale sequenced human genomes.
Montgomery SB; Lappalainen T; Gutierrez-Arcelus M; Dermitzakis ET
PLoS Genet; 2011 Jul; 7(7):e1002144. PubMed ID: 21811411
[TBL] [Abstract][Full Text] [Related]
8. The sequences of 150,119 genomes in the UK Biobank.
Halldorsson BV; Eggertsson HP; Moore KHS; Hauswedell H; Eiriksson O; Ulfarsson MO; Palsson G; Hardarson MT; Oddsson A; Jensson BO; Kristmundsdottir S; Sigurpalsdottir BD; Stefansson OA; Beyter D; Holley G; Tragante V; Gylfason A; Olason PI; Zink F; Asgeirsdottir M; Sverrisson ST; Sigurdsson B; Gudjonsson SA; Sigurdsson GT; Halldorsson GH; Sveinbjornsson G; Norland K; Styrkarsdottir U; Magnusdottir DN; Snorradottir S; Kristinsson K; Sobech E; Jonsson H; Geirsson AJ; Olafsson I; Jonsson P; Pedersen OB; Erikstrup C; Brunak S; Ostrowski SR; ; Thorleifsson G; Jonsson F; Melsted P; Jonsdottir I; Rafnar T; Holm H; Stefansson H; Saemundsdottir J; Gudbjartsson DF; Magnusson OT; Masson G; Thorsteinsdottir U; Helgason A; Jonsson H; Sulem P; Stefansson K
Nature; 2022 Jul; 607(7920):732-740. PubMed ID: 35859178
[TBL] [Abstract][Full Text] [Related]
9. A map of human genome variation from population-scale sequencing.
; Abecasis GR; Altshuler D; Auton A; Brooks LD; Durbin RM; Gibbs RA; Hurles ME; McVean GA
Nature; 2010 Oct; 467(7319):1061-73. PubMed ID: 20981092
[TBL] [Abstract][Full Text] [Related]
10. A global reference for human genetic variation.
; Auton A; Brooks LD; Durbin RM; Garrison EP; Kang HM; Korbel JO; Marchini JL; McCarthy S; McVean GA; Abecasis GR
Nature; 2015 Oct; 526(7571):68-74. PubMed ID: 26432245
[TBL] [Abstract][Full Text] [Related]
11. High-coverage whole-genome sequencing of the expanded 1000 Genomes Project cohort including 602 trios.
Byrska-Bishop M; Evani US; Zhao X; Basile AO; Abel HJ; Regier AA; Corvelo A; Clarke WE; Musunuri R; Nagulapalli K; Fairley S; Runnels A; Winterkorn L; Lowy E; ; Paul Flicek ; Germer S; Brand H; Hall IM; Talkowski ME; Narzisi G; Zody MC
Cell; 2022 Sep; 185(18):3426-3440.e19. PubMed ID: 36055201
[TBL] [Abstract][Full Text] [Related]
12. Mapping and sequencing of structural variation from eight human genomes.
Kidd JM; Cooper GM; Donahue WF; Hayden HS; Sampas N; Graves T; Hansen N; Teague B; Alkan C; Antonacci F; Haugen E; Zerr T; Yamada NA; Tsang P; Newman TL; Tüzün E; Cheng Z; Ebling HM; Tusneem N; David R; Gillett W; Phelps KA; Weaver M; Saranga D; Brand A; Tao W; Gustafson E; McKernan K; Chen L; Malig M; Smith JD; Korn JM; McCarroll SA; Altshuler DA; Peiffer DA; Dorschner M; Stamatoyannopoulos J; Schwartz D; Nickerson DA; Mullikin JC; Wilson RK; Bruhn L; Olson MV; Kaul R; Smith DR; Eichler EE
Nature; 2008 May; 453(7191):56-64. PubMed ID: 18451855
[TBL] [Abstract][Full Text] [Related]
13. The impact of structural variation on human gene expression.
Chiang C; Scott AJ; Davis JR; Tsang EK; Li X; Kim Y; Hadzic T; Damani FN; Ganel L; ; Montgomery SB; Battle A; Conrad DF; Hall IM
Nat Genet; 2017 May; 49(5):692-699. PubMed ID: 28369037
[TBL] [Abstract][Full Text] [Related]
14. Calling known variants and identifying new variants while rapidly aligning sequence data.
VanRaden PM; Bickhart DM; O'Connell JR
J Dairy Sci; 2019 Apr; 102(4):3216-3229. PubMed ID: 30772032
[TBL] [Abstract][Full Text] [Related]
15. Transcriptome and genome sequencing uncovers functional variation in humans.
Lappalainen T; Sammeth M; Friedländer MR; 't Hoen PA; Monlong J; Rivas MA; Gonzàlez-Porta M; Kurbatova N; Griebel T; Ferreira PG; Barann M; Wieland T; Greger L; van Iterson M; Almlöf J; Ribeca P; Pulyakhina I; Esser D; Giger T; Tikhonov A; Sultan M; Bertier G; MacArthur DG; Lek M; Lizano E; Buermans HP; Padioleau I; Schwarzmayr T; Karlberg O; Ongen H; Kilpinen H; Beltran S; Gut M; Kahlem K; Amstislavskiy V; Stegle O; Pirinen M; Montgomery SB; Donnelly P; McCarthy MI; Flicek P; Strom TM; ; Lehrach H; Schreiber S; Sudbrak R; Carracedo A; Antonarakis SE; Häsler R; Syvänen AC; van Ommen GJ; Brazma A; Meitinger T; Rosenstiel P; Guigó R; Gut IG; Estivill X; Dermitzakis ET
Nature; 2013 Sep; 501(7468):506-11. PubMed ID: 24037378
[TBL] [Abstract][Full Text] [Related]
16. Variance explained by whole genome sequence variants in coding and regulatory genome annotations for six dairy traits.
Koufariotis LT; Chen YP; Stothard P; Hayes BJ
BMC Genomics; 2018 Apr; 19(1):237. PubMed ID: 29618315
[TBL] [Abstract][Full Text] [Related]
17. India Allele Finder: a web-based annotation tool for identifying common alleles in next-generation sequencing data of Indian origin.
Zhang JF; James F; Shukla A; Girisha KM; Paciorkowski AR
BMC Res Notes; 2017 Jun; 10(1):233. PubMed ID: 28655339
[TBL] [Abstract][Full Text] [Related]
18. An integrated map of structural variation in 2,504 human genomes.
Sudmant PH; Rausch T; Gardner EJ; Handsaker RE; Abyzov A; Huddleston J; Zhang Y; Ye K; Jun G; Fritz MH; Konkel MK; Malhotra A; Stütz AM; Shi X; Casale FP; Chen J; Hormozdiari F; Dayama G; Chen K; Malig M; Chaisson MJP; Walter K; Meiers S; Kashin S; Garrison E; Auton A; Lam HYK; Mu XJ; Alkan C; Antaki D; Bae T; Cerveira E; Chines P; Chong Z; Clarke L; Dal E; Ding L; Emery S; Fan X; Gujral M; Kahveci F; Kidd JM; Kong Y; Lameijer EW; McCarthy S; Flicek P; Gibbs RA; Marth G; Mason CE; Menelaou A; Muzny DM; Nelson BJ; Noor A; Parrish NF; Pendleton M; Quitadamo A; Raeder B; Schadt EE; Romanovitch M; Schlattl A; Sebra R; Shabalin AA; Untergasser A; Walker JA; Wang M; Yu F; Zhang C; Zhang J; Zheng-Bradley X; Zhou W; Zichner T; Sebat J; Batzer MA; McCarroll SA; ; Mills RE; Gerstein MB; Bashir A; Stegle O; Devine SE; Lee C; Eichler EE; Korbel JO
Nature; 2015 Oct; 526(7571):75-81. PubMed ID: 26432246
[TBL] [Abstract][Full Text] [Related]
19. Pangenomics enables genotyping of known structural variants in 5202 diverse genomes.
Sirén J; Monlong J; Chang X; Novak AM; Eizenga JM; Markello C; Sibbesen JA; Hickey G; Chang PC; Carroll A; Gupta N; Gabriel S; Blackwell TW; Ratan A; Taylor KD; Rich SS; Rotter JI; Haussler D; Garrison E; Paten B
Science; 2021 Dec; 374(6574):abg8871. PubMed ID: 34914532
[TBL] [Abstract][Full Text] [Related]
20. Whole genome sequencing identifies high-impact variants in well-known pharmacogenomic genes.
Choi J; Tantisira KG; Duan QL
Pharmacogenomics J; 2019 Apr; 19(2):127-135. PubMed ID: 30214008
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
