304 related articles for article (PubMed ID: 24894505)
21. 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]
22. Benchmarking workflows to assess performance and suitability of germline variant calling pipelines in clinical diagnostic assays.
Krishnan V; Utiramerur S; Ng Z; Datta S; Snyder MP; Ashley EA
BMC Bioinformatics; 2021 Feb; 22(1):85. PubMed ID: 33627090
[TBL] [Abstract][Full Text] [Related]
23. Challenges in exome analysis by LifeScope and its alternative computational pipelines.
Pranckevičiene E; Rančelis T; Pranculis A; Kučinskas V
BMC Res Notes; 2015 Sep; 8():421. PubMed ID: 26346699
[TBL] [Abstract][Full Text] [Related]
24. VarGrouper: A Bioinformatic Tool for Local Haplotyping of Deletion-Insertion Variants from Next-Generation Sequencing Data after Variant Calling.
Schmidt RJ; Macleay A; Le LP
J Mol Diagn; 2019 May; 21(3):384-389. PubMed ID: 30794986
[TBL] [Abstract][Full Text] [Related]
25. Consensus Genotyper for Exome Sequencing (CGES): improving the quality of exome variant genotypes.
Trubetskoy V; Rodriguez A; Dave U; Campbell N; Crawford EL; Cook EH; Sutcliffe JS; Foster I; Madduri R; Cox NJ; Davis LK
Bioinformatics; 2015 Jan; 31(2):187-93. PubMed ID: 25270638
[TBL] [Abstract][Full Text] [Related]
26. Genomic variant benchmark: if you cannot measure it, you cannot improve it.
Majidian S; Agustinho DP; Chin CS; Sedlazeck FJ; Mahmoud M
Genome Biol; 2023 Oct; 24(1):221. PubMed ID: 37798733
[TBL] [Abstract][Full Text] [Related]
27. Set-theory based benchmarking of three different variant callers for targeted sequencing.
Molina-Mora JA; Solano-Vargas M
BMC Bioinformatics; 2021 Jan; 22(1):20. PubMed ID: 33413082
[TBL] [Abstract][Full Text] [Related]
28. Variant Review with the Integrative Genomics Viewer.
Robinson JT; Thorvaldsdóttir H; Wenger AM; Zehir A; Mesirov JP
Cancer Res; 2017 Nov; 77(21):e31-e34. PubMed ID: 29092934
[TBL] [Abstract][Full Text] [Related]
29. Toward better understanding of artifacts in variant calling from high-coverage samples.
Li H
Bioinformatics; 2014 Oct; 30(20):2843-51. PubMed ID: 24974202
[TBL] [Abstract][Full Text] [Related]
30. CoVaCS: a consensus variant calling system.
Chiara M; Gioiosa S; Chillemi G; D'Antonio M; Flati T; Picardi E; Zambelli F; Horner DS; Pesole G; Castrignanò T
BMC Genomics; 2018 Feb; 19(1):120. PubMed ID: 29402227
[TBL] [Abstract][Full Text] [Related]
31. SVSR: A Program to Simulate Structural Variations and Generate Sequencing Reads for Multiple Platforms.
Yuan X; Gao M; Bai J; Duan J
IEEE/ACM Trans Comput Biol Bioinform; 2020; 17(3):1082-1091. PubMed ID: 30334804
[TBL] [Abstract][Full Text] [Related]
32. Leveraging long read sequencing from a single individual to provide a comprehensive resource for benchmarking variant calling methods.
Mu JC; Tootoonchi Afshar P; Mohiyuddin M; Chen X; Li J; Bani Asadi N; Gerstein MB; Wong WH; Lam HY
Sci Rep; 2015 Sep; 5():14493. PubMed ID: 26412485
[TBL] [Abstract][Full Text] [Related]
33. Detection of oncogenic and clinically actionable mutations in cancer genomes critically depends on variant calling tools.
Garcia-Prieto CA; Martínez-Jiménez F; Valencia A; Porta-Pardo E
Bioinformatics; 2022 Jun; 38(12):3181-3191. PubMed ID: 35512388
[TBL] [Abstract][Full Text] [Related]
34. TotalReCaller: improved accuracy and performance via integrated alignment and base-calling.
Menges F; Narzisi G; Mishra B
Bioinformatics; 2011 Sep; 27(17):2330-7. PubMed ID: 21724593
[TBL] [Abstract][Full Text] [Related]
35. An integrative variant analysis suite for whole exome next-generation sequencing data.
Challis D; Yu J; Evani US; Jackson AR; Paithankar S; Coarfa C; Milosavljevic A; Gibbs RA; Yu F
BMC Bioinformatics; 2012 Jan; 13():8. PubMed ID: 22239737
[TBL] [Abstract][Full Text] [Related]
36. SimBA: A methodology and tools for evaluating the performance of RNA-Seq bioinformatic pipelines.
Audoux J; Salson M; Grosset CF; Beaumeunier S; Holder JM; Commes T; Philippe N
BMC Bioinformatics; 2017 Sep; 18(1):428. PubMed ID: 28969586
[TBL] [Abstract][Full Text] [Related]
37. Using genotype array data to compare multi- and single-sample variant calls and improve variant call sets from deep coverage whole-genome sequencing data.
Shringarpure SS; Mathias RA; Hernandez RD; O'Connor TD; Szpiech ZA; Torres R; De La Vega FM; Bustamante CD; Barnes KC; Taub MA;
Bioinformatics; 2017 Apr; 33(8):1147-1153. PubMed ID: 28035032
[TBL] [Abstract][Full Text] [Related]
38. Performance evaluation of indel calling tools using real short-read data.
Hasan MS; Wu X; Zhang L
Hum Genomics; 2015 Aug; 9(1):20. PubMed ID: 26286629
[TBL] [Abstract][Full Text] [Related]
39. Leveraging known genomic variants to improve detection of variants, especially close-by Indels.
Vo NS; Phan V
Bioinformatics; 2018 Sep; 34(17):2918-2926. PubMed ID: 29590294
[TBL] [Abstract][Full Text] [Related]
40. 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]
[Previous] [Next] [New Search]
