261 related articles for article (PubMed ID: 25597990)
41. Structural Variation Detection and Analysis Using Bionano Optical Mapping.
Chan S; Lam E; Saghbini M; Bocklandt S; Hastie A; Cao H; Holmlin E; Borodkin M
Methods Mol Biol; 2018; 1833():193-203. PubMed ID: 30039375
[TBL] [Abstract][Full Text] [Related]
42. Filtering de novo indels in parent-offspring trios.
Liu Y; Liu J; Wang Y
BMC Bioinformatics; 2020 Dec; 21(Suppl 16):547. PubMed ID: 33323105
[TBL] [Abstract][Full Text] [Related]
43. De novo assembly and genotyping of variants using colored de Bruijn graphs.
Iqbal Z; Caccamo M; Turner I; Flicek P; McVean G
Nat Genet; 2012 Jan; 44(2):226-32. PubMed ID: 22231483
[TBL] [Abstract][Full Text] [Related]
44. Joint variant and de novo mutation identification on pedigrees from high-throughput sequencing data.
Cleary JG; Braithwaite R; Gaastra K; Hilbush BS; Inglis S; Irvine SA; Jackson A; Littin R; Nohzadeh-Malakshah S; Rathod M; Ware D; Trigg L; De La Vega FM
J Comput Biol; 2014 Jun; 21(6):405-19. PubMed ID: 24874280
[TBL] [Abstract][Full Text] [Related]
45. Whole-genome sequencing of Atacama skeleton shows novel mutations linked with dysplasia.
Bhattacharya S; Li J; Sockell A; Kan MJ; Bava FA; Chen SC; Ávila-Arcos MC; Ji X; Smith E; Asadi NB; Lachman RS; Lam HYK; Bustamante CD; Butte AJ; Nolan GP
Genome Res; 2018 Apr; 28(4):423-431. PubMed ID: 29567674
[TBL] [Abstract][Full Text] [Related]
46. Genome-wide patterns and properties of de novo mutations in humans.
Francioli LC; Polak PP; Koren A; Menelaou A; Chun S; Renkens I; ; van Duijn CM; Swertz M; Wijmenga C; van Ommen G; Slagboom PE; Boomsma DI; Ye K; Guryev V; Arndt PF; Kloosterman WP; de Bakker PIW; Sunyaev SR
Nat Genet; 2015 Jul; 47(7):822-826. PubMed ID: 25985141
[TBL] [Abstract][Full Text] [Related]
47. Long-read trio sequencing of individuals with unsolved intellectual disability.
Pauper M; Kucuk E; Wenger AM; Chakraborty S; Baybayan P; Kwint M; van der Sanden B; Nelen MR; Derks R; Brunner HG; Hoischen A; Vissers LELM; Gilissen C
Eur J Hum Genet; 2021 Apr; 29(4):637-648. PubMed ID: 33257779
[TBL] [Abstract][Full Text] [Related]
48. Detection and phasing of single base de novo mutations in biopsies from human in vitro fertilized embryos by advanced whole-genome sequencing.
Peters BA; Kermani BG; Alferov O; Agarwal MR; McElwain MA; Gulbahce N; Hayden DM; Tang YT; Zhang RY; Tearle R; Crain B; Prates R; Berkeley A; Munné S; Drmanac R
Genome Res; 2015 Mar; 25(3):426-34. PubMed ID: 25672852
[TBL] [Abstract][Full Text] [Related]
49. Quality control metrics improve repeatability and reproducibility of single-nucleotide variants derived from whole-genome sequencing.
Zhang W; Soika V; Meehan J; Su Z; Ge W; Ng HW; Perkins R; Simonyan V; Tong W; Hong H
Pharmacogenomics J; 2015 Aug; 15(4):298-309. PubMed ID: 25384574
[TBL] [Abstract][Full Text] [Related]
50. A universal algorithm for de novo decrypting of heterozygous indel sequences: a tool for personalized medicine.
Lam CW
Clin Chim Acta; 2008 Mar; 389(1-2):7-13. PubMed ID: 18078814
[TBL] [Abstract][Full Text] [Related]
51. Kevlar: A Mapping-Free Framework for Accurate Discovery of De Novo Variants.
Standage DS; Brown CT; Hormozdiari F
iScience; 2019 Aug; 18():28-36. PubMed ID: 31377530
[TBL] [Abstract][Full Text] [Related]
52. De novo mutations discovered in 8 Mexican American families through whole genome sequencing.
Wang H; Zhu X
BMC Proc; 2014; 8(Suppl 1 Genetic Analysis Workshop 18Vanessa Olmo):S24. PubMed ID: 25519376
[TBL] [Abstract][Full Text] [Related]
53. Properties and rates of germline mutations in humans.
Campbell CD; Eichler EE
Trends Genet; 2013 Oct; 29(10):575-84. PubMed ID: 23684843
[TBL] [Abstract][Full Text] [Related]
54. Somatic mosaicism: implications for disease and transmission genetics.
Campbell IM; Shaw CA; Stankiewicz P; Lupski JR
Trends Genet; 2015 Jul; 31(7):382-92. PubMed ID: 25910407
[TBL] [Abstract][Full Text] [Related]
55. A method to build extended sequence context models of point mutations and indels.
Bethune J; Kleppe A; Besenbacher S
Nat Commun; 2022 Dec; 13(1):7884. PubMed ID: 36550134
[TBL] [Abstract][Full Text] [Related]
56. Estimating the human mutation rate using autozygosity in a founder population.
Campbell CD; Chong JX; Malig M; Ko A; Dumont BL; Han L; Vives L; O'Roak BJ; Sudmant PH; Shendure J; Abney M; Ober C; Eichler EE
Nat Genet; 2012 Nov; 44(11):1277-81. PubMed ID: 23001126
[TBL] [Abstract][Full Text] [Related]
57. Personal genome sequencing: current approaches and challenges.
Snyder M; Du J; Gerstein M
Genes Dev; 2010 Mar; 24(5):423-31. PubMed ID: 20194435
[TBL] [Abstract][Full Text] [Related]
58. The Genome of the Netherlands: design, and project goals.
Boomsma DI; Wijmenga C; Slagboom EP; Swertz MA; Karssen LC; Abdellaoui A; Ye K; Guryev V; Vermaat M; van Dijk F; Francioli LC; Hottenga JJ; Laros JF; Li Q; Li Y; Cao H; Chen R; Du Y; Li N; Cao S; van Setten J; Menelaou A; Pulit SL; Hehir-Kwa JY; Beekman M; Elbers CC; Byelas H; de Craen AJ; Deelen P; Dijkstra M; den Dunnen JT; de Knijff P; Houwing-Duistermaat J; Koval V; Estrada K; Hofman A; Kanterakis A; Enckevort Dv; Mai H; Kattenberg M; van Leeuwen EM; Neerincx PB; Oostra B; Rivadeneira F; Suchiman EH; Uitterlinden AG; Willemsen G; Wolffenbuttel BH; Wang J; de Bakker PI; van Ommen GJ; van Duijn CM
Eur J Hum Genet; 2014 Feb; 22(2):221-7. PubMed ID: 23714750
[TBL] [Abstract][Full Text] [Related]
59. How much of the variation in the mutation rate along the human genome can be explained?
Eyre-Walker A; Eyre-Walker YC
G3 (Bethesda); 2014 Jul; 4(9):1667-70. PubMed ID: 24996580
[TBL] [Abstract][Full Text] [Related]
60. SweGen: a whole-genome data resource of genetic variability in a cross-section of the Swedish population.
Ameur A; Dahlberg J; Olason P; Vezzi F; Karlsson R; Martin M; Viklund J; Kähäri AK; Lundin P; Che H; Thutkawkorapin J; Eisfeldt J; Lampa S; Dahlberg M; Hagberg J; Jareborg N; Liljedahl U; Jonasson I; Johansson Å; Feuk L; Lundeberg J; Syvänen AC; Lundin S; Nilsson D; Nystedt B; Magnusson PK; Gyllensten U
Eur J Hum Genet; 2017 Nov; 25(11):1253-1260. PubMed ID: 28832569
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
