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Items: 1 to 20 of 194

1.

Identifying Extrinsic versus Intrinsic Drivers of Variation in Cell Behavior in Human iPSC Lines from Healthy Donors.

Vigilante A, Laddach A, Moens N, Meleckyte R, Leha A, Ghahramani A, Culley OJ, Kathuria A, Hurling C, Vickers A, Wiseman E, Tewary M, Zandstra PW; HipSci Consortium, Durbin R, Fraternali F, Stegle O, Birney E, Luscombe NM, Danovi D, Watt FM.

Cell Rep. 2019 Feb 19;26(8):2078-2087.e3. doi: 10.1016/j.celrep.2019.01.094.

2.

A High-Quality De novo Genome Assembly from a Single Mosquito Using PacBio Sequencing.

Kingan SB, Heaton H, Cudini J, Lambert CC, Baybayan P, Galvin BD, Durbin R, Korlach J, Lawniczak MKN.

Genes (Basel). 2019 Jan 18;10(1). pii: E62. doi: 10.3390/genes10010062.

3.

Low-frequency variation in TP53 has large effects on head circumference and intracranial volume.

Haworth S, Shapland CY, Hayward C, Prins BP, Felix JF, Medina-Gomez C, Rivadeneira F, Wang C, Ahluwalia TS, Vrijheid M, Guxens M, Sunyer J, Tachmazidou I, Walter K, Iotchkova V, Jackson A, Cleal L, Huffmann J, Min JL, Sass L, Timmers PRHJ; UK10K consortium, Davey Smith G, Fisher SE, Wilson JF, Cole TJ, Fernandez-Orth D, Bønnelykke K, Bisgaard H, Pennell CE, Jaddoe VWV, Dedoussis G, Timpson N, Zeggini E, Vitart V, St Pourcain B.

Nat Commun. 2019 Jan 21;10(1):357. doi: 10.1038/s41467-018-07863-x.

4.

Whole-genome sequences of Malawi cichlids reveal multiple radiations interconnected by gene flow.

Malinsky M, Svardal H, Tyers AM, Miska EA, Genner MJ, Turner GF, Durbin R.

Nat Ecol Evol. 2018 Dec;2(12):1940-1955. doi: 10.1038/s41559-018-0717-x. Epub 2018 Nov 19.

5.

Sixteen diverse laboratory mouse reference genomes define strain-specific haplotypes and novel functional loci.

Lilue J, Doran AG, Fiddes IT, Abrudan M, Armstrong J, Bennett R, Chow W, Collins J, Collins S, Czechanski A, Danecek P, Diekhans M, Dolle DD, Dunn M, Durbin R, Earl D, Ferguson-Smith A, Flicek P, Flint J, Frankish A, Fu B, Gerstein M, Gilbert J, Goodstadt L, Harrow J, Howe K, Ibarra-Soria X, Kolmogorov M, Lelliott CJ, Logan DW, Loveland J, Mathews CE, Mott R, Muir P, Nachtweide S, Navarro FCP, Odom DT, Park N, Pelan S, Pham SK, Quail M, Reinholdt L, Romoth L, Shirley L, Sisu C, Sjoberg-Herrera M, Stanke M, Steward C, Thomas M, Threadgold G, Thybert D, Torrance J, Wong K, Wood J, Yalcin B, Yang F, Adams DJ, Paten B, Keane TM.

Nat Genet. 2018 Nov;50(11):1574-1583. doi: 10.1038/s41588-018-0223-8. Epub 2018 Oct 1.

6.

Detecting archaic introgression using an unadmixed outgroup.

Skov L, Hui R, Shchur V, Hobolth A, Scally A, Schierup MH, Durbin R.

PLoS Genet. 2018 Sep 18;14(9):e1007641. doi: 10.1371/journal.pgen.1007641. eCollection 2018 Sep.

7.

Variation graph toolkit improves read mapping by representing genetic variation in the reference.

Garrison E, Sirén J, Novak AM, Hickey G, Eizenga JM, Dawson ET, Jones W, Garg S, Markello C, Lin MF, Paten B, Durbin R.

Nat Biotechnol. 2018 Oct;36(9):875-879. doi: 10.1038/nbt.4227. Epub 2018 Aug 20.

8.

Did Our Species Evolve in Subdivided Populations across Africa, and Why Does It Matter?

Scerri EML, Thomas MG, Manica A, Gunz P, Stock JT, Stringer C, Grove M, Groucutt HS, Timmermann A, Rightmire GP, d'Errico F, Tryon CA, Drake NA, Brooks AS, Dennell RW, Durbin R, Henn BM, Lee-Thorp J, deMenocal P, Petraglia MD, Thompson JC, Scally A, Chikhi L.

Trends Ecol Evol. 2018 Aug;33(8):582-594. doi: 10.1016/j.tree.2018.05.005. Epub 2018 Jul 11.

9.

Crumble: reference free lossy compression of sequence quality values.

Bonfield JK, McCarthy SA, Durbin R.

Bioinformatics. 2019 Jan 15;35(2):337-339. doi: 10.1093/bioinformatics/bty608.

10.

A graph-based approach to diploid genome assembly.

Garg S, Rautiainen M, Novak AM, Garrison E, Durbin R, Marschall T.

Bioinformatics. 2018 Jul 1;34(13):i105-i114. doi: 10.1093/bioinformatics/bty279.

11.

htsget: a protocol for securely streaming genomic data.

Kelleher J, Lin M, Albach CH, Birney E, Davies R, Gourtovaia M, Glazer D, Gonzalez CY, Jackson DK, Kemp A, Marshall J, Nowak A, Senf A, Tovar-Corona JM, Vikhorev A, Keane TM; GA4GH Streaming Task Team .

Bioinformatics. 2019 Jan 1;35(1):119-121. doi: 10.1093/bioinformatics/bty492.

12.

The first horse herders and the impact of early Bronze Age steppe expansions into Asia.

de Barros Damgaard P, Martiniano R, Kamm J, Moreno-Mayar JV, Kroonen G, Peyrot M, Barjamovic G, Rasmussen S, Zacho C, Baimukhanov N, Zaibert V, Merz V, Biddanda A, Merz I, Loman V, Evdokimov V, Usmanova E, Hemphill B, Seguin-Orlando A, Yediay FE, Ullah I, Sjögren KG, Iversen KH, Choin J, de la Fuente C, Ilardo M, Schroeder H, Moiseyev V, Gromov A, Polyakov A, Omura S, Senyurt SY, Ahmad H, McKenzie C, Margaryan A, Hameed A, Samad A, Gul N, Khokhar MH, Goriunova OI, Bazaliiskii VI, Novembre J, Weber AW, Orlando L, Allentoft ME, Nielsen R, Kristiansen K, Sikora M, Outram AK, Durbin R, Willerslev E.

Science. 2018 Jun 29;360(6396). pii: eaar7711. doi: 10.1126/science.aar7711. Epub 2018 May 9.

PMID:
29743352
13.

Earth BioGenome Project: Sequencing life for the future of life.

Lewin HA, Robinson GE, Kress WJ, Baker WJ, Coddington J, Crandall KA, Durbin R, Edwards SV, Forest F, Gilbert MTP, Goldstein MM, Grigoriev IV, Hackett KJ, Haussler D, Jarvis ED, Johnson WE, Patrinos A, Richards S, Castilla-Rubio JC, van Sluys MA, Soltis PS, Xu X, Yang H, Zhang G.

Proc Natl Acad Sci U S A. 2018 Apr 24;115(17):4325-4333. doi: 10.1073/pnas.1720115115.

14.

Estimating the human mutation rate from autozygous segments reveals population differences in human mutational processes.

Narasimhan VM, Rahbari R, Scally A, Wuster A, Mason D, Xue Y, Wright J, Trembath RC, Maher ER, van Heel DA, Auton A, Hurles ME, Tyler-Smith C, Durbin R.

Nat Commun. 2017 Aug 21;8(1):303. doi: 10.1038/s41467-017-00323-y.

15.

Rare Variant Analysis of Human and Rodent Obesity Genes in Individuals with Severe Childhood Obesity.

Hendricks AE, Bochukova EG, Marenne G, Keogh JM, Atanassova N, Bounds R, Wheeler E, Mistry V, Henning E, Körner A, Muddyman D, McCarthy S, Hinney A, Hebebrand J, Scott RA, Langenberg C, Wareham NJ, Surendran P, Howson JM, Butterworth AS, Danesh J, Nordestgaard BG, Nielsen SF, Afzal S, Papadia S, Ashford S, Garg S, Millhauser GL, Palomino RI, Kwasniewska A, Tachmazidou I, O'Rahilly S, Zeggini E, Barroso I, Farooqi IS; Understanding Society Scientific Group; EPIC-CVD Consortium; UK10K Consortium.

Sci Rep. 2017 Jun 29;7(1):4394. doi: 10.1038/s41598-017-03054-8.

16.

Enrichment of low-frequency functional variants revealed by whole-genome sequencing of multiple isolated European populations.

Xue Y, Mezzavilla M, Haber M, McCarthy S, Chen Y, Narasimhan V, Gilly A, Ayub Q, Colonna V, Southam L, Finan C, Massaia A, Chheda H, Palta P, Ritchie G, Asimit J, Dedoussis G, Gasparini P, Palotie A, Ripatti S, Soranzo N, Toniolo D, Wilson JF, Durbin R, Tyler-Smith C, Zeggini E.

Nat Commun. 2017 Jun 23;8:15927. doi: 10.1038/ncomms15927.

17.

De novo yeast genome assemblies from MinION, PacBio and MiSeq platforms.

Giordano F, Aigrain L, Quail MA, Coupland P, Bonfield JK, Davies RM, Tischler G, Jackson DK, Keane TM, Li J, Yue JX, Liti G, Durbin R, Ning Z.

Sci Rep. 2017 Jun 21;7(1):3935. doi: 10.1038/s41598-017-03996-z.

18.

Corrigendum: Common genetic variation drives molecular heterogeneity in human iPSCs.

Kilpinen H, Goncalves A, Leha A, Afzal V, Alasoo K, Ashford S, Bala S, Bensaddek D, Casale FP, Culley OJ, Danecek P, Faulconbridge A, Harrison PW, Kathuria A, McCarthy D, McCarthy SA, Meleckyte R, Memari Y, Moens N, Soares F, Mann A, Streeter I, Agu CA, Alderton A, Nelson R, Harper S, Patel M, White A, Patel SR, Clarke L, Halai R, Kirton CM, Kolb-Kokocinski A, Beales P, Birney E, Danovi D, Lamond AI, Ouwehand WH, Vallier L, Watt FM, Durbin R, Stegle O, Gaffney DJ.

Nature. 2017 Jun 29;546(7660):686. doi: 10.1038/nature23012. Epub 2017 Jun 14.

PMID:
28614302
19.

No evidence for maintenance of a sympatric Heliconius species barrier by chromosomal inversions.

Davey JW, Barker SL, Rastas PM, Pinharanda A, Martin SH, Durbin R, McMillan WO, Merrill RM, Jiggins CD.

Evol Lett. 2017 Jun 14;1(3):138-154. doi: 10.1002/evl3.12. eCollection 2017 Aug.

20.

Whole-Genome Sequencing Coupled to Imputation Discovers Genetic Signals for Anthropometric Traits.

Tachmazidou I, Süveges D, Min JL, Ritchie GRS, Steinberg J, Walter K, Iotchkova V, Schwartzentruber J, Huang J, Memari Y, McCarthy S, Crawford AA, Bombieri C, Cocca M, Farmaki AE, Gaunt TR, Jousilahti P, Kooijman MN, Lehne B, Malerba G, Männistö S, Matchan A, Medina-Gomez C, Metrustry SJ, Nag A, Ntalla I, Paternoster L, Rayner NW, Sala C, Scott WR, Shihab HA, Southam L, St Pourcain B, Traglia M, Trajanoska K, Zaza G, Zhang W, Artigas MS, Bansal N, Benn M, Chen Z, Danecek P, Lin WY, Locke A, Luan J, Manning AK, Mulas A, Sidore C, Tybjaerg-Hansen A, Varbo A, Zoledziewska M, Finan C, Hatzikotoulas K, Hendricks AE, Kemp JP, Moayyeri A, Panoutsopoulou K, Szpak M, Wilson SG, Boehnke M, Cucca F, Di Angelantonio E, Langenberg C, Lindgren C, McCarthy MI, Morris AP, Nordestgaard BG, Scott RA, Tobin MD, Wareham NJ; SpiroMeta Consortium; GoT2D Consortium, Burton P, Chambers JC, Smith GD, Dedoussis G, Felix JF, Franco OH, Gambaro G, Gasparini P, Hammond CJ, Hofman A, Jaddoe VWV, Kleber M, Kooner JS, Perola M, Relton C, Ring SM, Rivadeneira F, Salomaa V, Spector TD, Stegle O, Toniolo D, Uitterlinden AG; arcOGEN Consortium; Understanding Society Scientific Group; UK10K Consortium, Barroso I, Greenwood CMT, Perry JRB, Walker BR, Butterworth AS, Xue Y, Durbin R, Small KS, Soranzo N, Timpson NJ, Zeggini E.

Am J Hum Genet. 2017 Jun 1;100(6):865-884. doi: 10.1016/j.ajhg.2017.04.014. Epub 2017 May 25.

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