213 related articles for article (PubMed ID: 29914369)
1. HAPDeNovo: a haplotype-based approach for filtering and phasing de novo mutations in linked read sequencing data.
Zhou X; Batzoglou S; Sidow A; Zhang L
BMC Genomics; 2018 Jun; 19(1):467. PubMed ID: 29914369
[TBL] [Abstract][Full Text] [Related]
2. Haplotyping-Assisted Diploid Assembly and Variant Detection with Linked Reads.
Hu Y; Yang C; Zhang L; Zhou X
Methods Mol Biol; 2023; 2590():161-182. PubMed ID: 36335499
[TBL] [Abstract][Full Text] [Related]
3. mirTrios: an integrated pipeline for detection of de novo and rare inherited mutations from trios-based next-generation sequencing.
Li J; Jiang Y; Wang T; Chen H; Xie Q; Shao Q; Ran X; Xia K; Sun ZS; Wu J
J Med Genet; 2015 Apr; 52(4):275-81. PubMed ID: 25596308
[TBL] [Abstract][Full Text] [Related]
4. Comprehensive de novo mutation discovery with HiFi long-read sequencing.
Kucuk E; van der Sanden BPGH; O'Gorman L; Kwint M; Derks R; Wenger AM; Lambert C; Chakraborty S; Baybayan P; Rowell WJ; Brunner HG; Vissers LELM; Hoischen A; Gilissen C
Genome Med; 2023 May; 15(1):34. PubMed ID: 37158973
[TBL] [Abstract][Full Text] [Related]
5. Leveraging reads that span multiple single nucleotide polymorphisms for haplotype inference from sequencing data.
Yang WY; Hormozdiari F; Wang Z; He D; Pasaniuc B; Eskin E
Bioinformatics; 2013 Sep; 29(18):2245-52. PubMed ID: 23825370
[TBL] [Abstract][Full Text] [Related]
6. Familial long-read sequencing increases yield of de novo mutations.
Noyes MD; Harvey WT; Porubsky D; Sulovari A; Li R; Rose NR; Audano PA; Munson KM; Lewis AP; Hoekzema K; Mantere T; Graves-Lindsay TA; Sanders AD; Goodwin S; Kramer M; Mokrab Y; Zody MC; Hoischen A; Korbel JO; McCombie WR; Eichler EE
Am J Hum Genet; 2022 Apr; 109(4):631-646. PubMed ID: 35290762
[TBL] [Abstract][Full Text] [Related]
7. Phasing of de novo mutations using a scaled-up multiple amplicon long-read sequencing approach.
Holt GS; Batty LE; Alobaidi BKS; Smith HE; Oud MS; Ramos L; Xavier MJ; Veltman JA
Hum Mutat; 2022 Nov; 43(11):1545-1556. PubMed ID: 36047340
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. A hybrid approach for de novo human genome sequence assembly and phasing.
Mostovoy Y; Levy-Sakin M; Lam J; Lam ET; Hastie AR; Marks P; Lee J; Chu C; Lin C; Džakula Ž; Cao H; Schlebusch SA; Giorda K; Schnall-Levin M; Wall JD; Kwok PY
Nat Methods; 2016 Jul; 13(7):587-90. PubMed ID: 27159086
[TBL] [Abstract][Full Text] [Related]
10. trioPhaser: using Mendelian inheritance logic to improve genomic phasing of trios.
Miller DB; Piccolo SR
BMC Bioinformatics; 2021 Nov; 22(1):559. PubMed ID: 34809557
[TBL] [Abstract][Full Text] [Related]
11. Haplotype phasing by multi-assembly of shared haplotypes: phase-dependent interactions between rare variants.
Halldórsson BV; Aguiar D; Istrail S
Pac Symp Biocomput; 2011; ():88-99. PubMed ID: 21121036
[TBL] [Abstract][Full Text] [Related]
12. Identification of de novo germline mutations and causal genes for sporadic diseases using trio-based whole-exome/genome sequencing.
Jin ZB; Li Z; Liu Z; Jiang Y; Cai XB; Wu J
Biol Rev Camb Philos Soc; 2018 May; 93(2):1014-1031. PubMed ID: 29154454
[TBL] [Abstract][Full Text] [Related]
13. Reducing false-positive incidental findings with ensemble genotyping and logistic regression based variant filtering methods.
Hwang KB; Lee IH; Park JH; Hambuch T; Choe Y; Kim M; Lee K; Song T; Neu MB; Gupta N; Kohane IS; Green RC; Kong SW
Hum Mutat; 2014 Aug; 35(8):936-44. PubMed ID: 24829188
[TBL] [Abstract][Full Text] [Related]
14. A Bayesian framework for de novo mutation calling in parents-offspring trios.
Wei Q; Zhan X; Zhong X; Liu Y; Han Y; Chen W; Li B
Bioinformatics; 2015 May; 31(9):1375-81. PubMed ID: 25535243
[TBL] [Abstract][Full Text] [Related]
15. Long-read-based single sperm genome sequencing for chromosome-wide haplotype phasing of both SNPs and SVs.
Xie H; Li W; Guo Y; Su X; Chen K; Wen L; Tang F
Nucleic Acids Res; 2023 Aug; 51(15):8020-8034. PubMed ID: 37351613
[TBL] [Abstract][Full Text] [Related]
16. WhatsHap: Weighted Haplotype Assembly for Future-Generation Sequencing Reads.
Patterson M; Marschall T; Pisanti N; van Iersel L; Stougie L; Klau GW; Schönhuth A
J Comput Biol; 2015 Jun; 22(6):498-509. PubMed ID: 25658651
[TBL] [Abstract][Full Text] [Related]
17. Precise detection of de novo single nucleotide variants in human genomes.
Gómez-Romero L; Palacios-Flores K; Reyes J; García D; Boege M; Dávila G; Flores M; Schatz MC; Palacios R
Proc Natl Acad Sci U S A; 2018 May; 115(21):5516-5521. PubMed ID: 29735690
[TBL] [Abstract][Full Text] [Related]
18. Extended haplotype-phasing of long-read de novo genome assemblies using Hi-C.
Kronenberg ZN; Rhie A; Koren S; Concepcion GT; Peluso P; Munson KM; Porubsky D; Kuhn K; Mueller KA; Low WY; Hiendleder S; Fedrigo O; Liachko I; Hall RJ; Phillippy AM; Eichler EE; Williams JL; Smith TPL; Jarvis ED; Sullivan ST; Kingan SB
Nat Commun; 2021 Apr; 12(1):1935. PubMed ID: 33911078
[TBL] [Abstract][Full Text] [Related]
19. Comparison of phasing strategies for whole human genomes.
Choi Y; Chan AP; Kirkness E; Telenti A; Schork NJ
PLoS Genet; 2018 Apr; 14(4):e1007308. PubMed ID: 29621242
[TBL] [Abstract][Full Text] [Related]
20. The linkage method: a novel approach for SNP detection and haplotype reconstruction from a single diploid individual using next-generation sequence data.
Sasaki E; Sugino RP; Innan H
Mol Biol Evol; 2013 Sep; 30(9):2187-96. PubMed ID: 23728796
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
