368 related articles for article (PubMed ID: 30779042)
21. The use of technical replication for detection of low-level somatic mutations in next-generation sequencing.
Kim J; Kim D; Lim JS; Maeng JH; Son H; Kang HC; Nam H; Lee JH; Kim S
Nat Commun; 2019 Mar; 10(1):1047. PubMed ID: 30837471
[TBL] [Abstract][Full Text] [Related]
22. A comparative investigation of single nucleotide variant calling for a personal non-Caucasian sequencing sample.
Park H; Gim J
Genes Genomics; 2023 Dec; 45(12):1527-1536. PubMed ID: 37651066
[TBL] [Abstract][Full Text] [Related]
23. Development and Validation of Clinical Whole-Exome and Whole-Genome Sequencing for Detection of Germline Variants in Inherited Disease.
Hegde M; Santani A; Mao R; Ferreira-Gonzalez A; Weck KE; Voelkerding KV
Arch Pathol Lab Med; 2017 Jun; 141(6):798-805. PubMed ID: 28362156
[TBL] [Abstract][Full Text] [Related]
24. Whole Genome Sequencing-Based Discovery of Structural Variants in Glioblastoma.
Wrzeszczynski KO; Felice V; Shah M; Rahman S; Emde AK; Jobanputra V; O Frank M; Darnell RB
Methods Mol Biol; 2018; 1741():1-29. PubMed ID: 29392687
[TBL] [Abstract][Full Text] [Related]
25. Genomic Sequence Variation Analysis by Resequencing.
Martin J; Schackwitz W; Lipzen A
Methods Mol Biol; 2018; 1775():229-239. PubMed ID: 29876821
[TBL] [Abstract][Full Text] [Related]
26. Sequencing of human genomes with nanopore technology.
Bowden R; Davies RW; Heger A; Pagnamenta AT; de Cesare M; Oikkonen LE; Parkes D; Freeman C; Dhalla F; Patel SY; Popitsch N; Ip CLC; Roberts HE; Salatino S; Lockstone H; Lunter G; Taylor JC; Buck D; Simpson MA; Donnelly P
Nat Commun; 2019 Apr; 10(1):1869. PubMed ID: 31015479
[TBL] [Abstract][Full Text] [Related]
27. Group-based variant calling leveraging next-generation supercomputing for large-scale whole-genome sequencing studies.
Standish KA; Carland TM; Lockwood GK; Pfeiffer W; Tatineni M; Huang CC; Lamberth S; Cherkas Y; Brodmerkel C; Jaeger E; Smith L; Rajagopal G; Curran ME; Schork NJ
BMC Bioinformatics; 2015 Sep; 16(1):304. PubMed ID: 26395405
[TBL] [Abstract][Full Text] [Related]
28. Human whole genome sequencing in South Africa.
Glanzmann B; Jooste T; Ghoor S; Gordon R; Mia R; Mao J; Li H; Charls P; Douman C; Kotze MJ; Peeters AV; Loots G; Esser M; Tiemessen CT; Wilkinson RJ; Louw J; Gray G; Warren RM; Möller M; Kinnear C
Sci Rep; 2021 Jan; 11(1):606. PubMed ID: 33436733
[TBL] [Abstract][Full Text] [Related]
29. Critical points for an accurate human genome analysis.
White SJ; Laros JFJ; Bakker E; Cambon-Thomsen A; Eden M; Leonard S; Lochmüller H; Matthijs G; Mattocks C; Patton S; Payne K; Scheffer H; Souche E; Thomassen E; Thompson R; Traeger-Synodinos J; Van Vooren S; Janssen B; den Dunnen JT
Hum Mutat; 2017 Aug; 38(8):912-921. PubMed ID: 28471515
[TBL] [Abstract][Full Text] [Related]
30. Global mapping of cancers: The Cancer Genome Atlas and beyond.
Ganini C; Amelio I; Bertolo R; Bove P; Buonomo OC; Candi E; Cipriani C; Di Daniele N; Juhl H; Mauriello A; Marani C; Marshall J; Melino S; Marchetti P; Montanaro M; Natale ME; Novelli F; Palmieri G; Piacentini M; Rendina EA; Roselli M; Sica G; Tesauro M; Rovella V; Tisone G; Shi Y; Wang Y; Melino G
Mol Oncol; 2021 Nov; 15(11):2823-2840. PubMed ID: 34245122
[TBL] [Abstract][Full Text] [Related]
31. Base-resolution stratification of cancer mutations using functional variomics.
Yi S; Liu NN; Hu L; Wang H; Sahni N
Nat Protoc; 2017 Nov; 12(11):2323-2341. PubMed ID: 28981122
[TBL] [Abstract][Full Text] [Related]
32. An optimized GATK4 pipeline for Plasmodium falciparum whole genome sequencing variant calling and analysis.
Niaré K; Greenhouse B; Bailey JA
Malar J; 2023 Jul; 22(1):207. PubMed ID: 37420214
[TBL] [Abstract][Full Text] [Related]
33. Comprehensive evaluation and characterisation of short read general-purpose structural variant calling software.
Cameron DL; Di Stefano L; Papenfuss AT
Nat Commun; 2019 Jul; 10(1):3240. PubMed ID: 31324872
[TBL] [Abstract][Full Text] [Related]
34. Targeted or whole genome sequencing of formalin fixed tissue samples: potential applications in cancer genomics.
Munchel S; Hoang Y; Zhao Y; Cottrell J; Klotzle B; Godwin AK; Koestler D; Beyerlein P; Fan JB; Bibikova M; Chien J
Oncotarget; 2015 Sep; 6(28):25943-61. PubMed ID: 26305677
[TBL] [Abstract][Full Text] [Related]
35. Recommendations for whole genome sequencing in diagnostics for rare diseases.
Souche E; Beltran S; Brosens E; Belmont JW; Fossum M; Riess O; Gilissen C; Ardeshirdavani A; Houge G; van Gijn M; Clayton-Smith J; Synofzik M; de Leeuw N; Deans ZC; Dincer Y; Eck SH; van der Crabben S; Balasubramanian M; Graessner H; Sturm M; Firth H; Ferlini A; Nabbout R; De Baere E; Liehr T; Macek M; Matthijs G; Scheffer H; Bauer P; Yntema HG; Weiss MM
Eur J Hum Genet; 2022 Sep; 30(9):1017-1021. PubMed ID: 35577938
[TBL] [Abstract][Full Text] [Related]
36. A study on fast calling variants from next-generation sequencing data using decision tree.
Li Z; Wang Y; Wang F
BMC Bioinformatics; 2018 Apr; 19(1):145. PubMed ID: 29673316
[TBL] [Abstract][Full Text] [Related]
37. Optimized pipeline of MuTect and GATK tools to improve the detection of somatic single nucleotide polymorphisms in whole-exome sequencing data.
do Valle ÍF; Giampieri E; Simonetti G; Padella A; Manfrini M; Ferrari A; Papayannidis C; Zironi I; Garonzi M; Bernardi S; Delledonne M; Martinelli G; Remondini D; Castellani G
BMC Bioinformatics; 2016 Nov; 17(Suppl 12):341. PubMed ID: 28185561
[TBL] [Abstract][Full Text] [Related]
38. WES/WGS Reporting of Mutations from Cardiovascular "Actionable" Genes in Clinical Practice: A Key Role for UMD Knowledgebases in the Era of Big Databases.
Pinard A; Salgado D; Desvignes JP; Rai G; Hanna N; Arnaud P; Guien C; Martinez M; Faivre L; Jondeau G; Boileau C; Zaffran S; Béroud C; Collod-Béroud G
Hum Mutat; 2016 Dec; 37(12):1308-1317. PubMed ID: 27647783
[TBL] [Abstract][Full Text] [Related]
39. Efficient and unique cobarcoding of second-generation sequencing reads from long DNA molecules enabling cost-effective and accurate sequencing, haplotyping, and de novo assembly.
Wang O; Chin R; Cheng X; Wu MKY; Mao Q; Tang J; Sun Y; Anderson E; Lam HK; Chen D; Zhou Y; Wang L; Fan F; Zou Y; Xie Y; Zhang RY; Drmanac S; Nguyen D; Xu C; Villarosa C; Gablenz S; Barua N; Nguyen S; Tian W; Liu JS; Wang J; Liu X; Qi X; Chen A; Wang H; Dong Y; Zhang W; Alexeev A; Yang H; Wang J; Kristiansen K; Xu X; Drmanac R; Peters BA
Genome Res; 2019 May; 29(5):798-808. PubMed ID: 30940689
[TBL] [Abstract][Full Text] [Related]
40. Integrated transcriptomic-genomic tool Texomer profiles cancer tissues.
Wang F; Zhang S; Kim TB; Lin YY; Iqbal R; Wang Z; Mohanty V; Sircar K; Karam JA; Wendl MC; Meric-Bernstam F; Weinstein JN; Ding L; Mills GB; Chen K
Nat Methods; 2019 May; 16(5):401-404. PubMed ID: 30988467
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]