Bafna V - Search Results

1

Virmid: accurate detection of somatic mutations with sample impurity inference.

Kim S, Jeong K, Bhutani K, Lee J, Patel A, Scott E, Nam H, Lee H, Gleeson JG, Bafna V. Kim S, et al. Among authors: bafna v. Genome Biol. 2013 Aug 29;14(8):R90. doi: 10.1186/gb-2013-14-8-r90. Genome Biol. 2013. PMID: 23987214 Free PMC article.

2

Exome sequencing can improve diagnosis and alter patient management.

Dixon-Salazar TJ, Silhavy JL, Udpa N, Schroth J, Bielas S, Schaffer AE, Olvera J, Bafna V, Zaki MS, Abdel-Salam GH, Mansour LA, Selim L, Abdel-Hadi S, Marzouki N, Ben-Omran T, Al-Saana NA, Sonmez FM, Celep F, Azam M, Hill KJ, Collazo A, Fenstermaker AG, Novarino G, Akizu N, Garimella KV, Sougnez C, Russ C, Gabriel SB, Gleeson JG. Dixon-Salazar TJ, et al. Among authors: bafna v. Sci Transl Med. 2012 Jun 13;4(138):138ra78. doi: 10.1126/scitranslmed.3003544. Sci Transl Med. 2012. PMID: 22700954 Free PMC article.

3

De novo somatic mutations in components of the PI3K-AKT3-mTOR pathway cause hemimegalencephaly.

Lee JH, Huynh M, Silhavy JL, Kim S, Dixon-Salazar T, Heiberg A, Scott E, Bafna V, Hill KJ, Collazo A, Funari V, Russ C, Gabriel SB, Mathern GW, Gleeson JG. Lee JH, et al. Among authors: bafna v. Nat Genet. 2012 Jun 24;44(8):941-5. doi: 10.1038/ng.2329. Nat Genet. 2012. PMID: 22729223 Free PMC article.

4

Wessim: a whole-exome sequencing simulator based on in silico exome capture.

Kim S, Jeong K, Bafna V. Kim S, et al. Among authors: bafna v. Bioinformatics. 2013 Apr 15;29(8):1076-7. doi: 10.1093/bioinformatics/btt074. Epub 2013 Feb 14. Bioinformatics. 2013. PMID: 23413434 Free PMC article.

5

Evaluating genome architecture of a complex region via generalized bipartite matching.

Lo C, Kim S, Zakov S, Bafna V. Lo C, et al. Among authors: bafna v. BMC Bioinformatics. 2013;14 Suppl 5(Suppl 5):S13. doi: 10.1186/1471-2105-14-S5-S13. Epub 2013 Apr 10. BMC Bioinformatics. 2013. PMID: 23734567 Free PMC article.

6

Amplification and thrifty single-molecule sequencing of recurrent somatic structural variations.

Patel A, Schwab R, Liu YT, Bafna V. Patel A, et al. Among authors: bafna v. Genome Res. 2014 Feb;24(2):318-28. doi: 10.1101/gr.161497.113. Epub 2013 Dec 4. Genome Res. 2014. PMID: 24307551 Free PMC article.

7

The elusive evidence for chromothripsis.

Kinsella M, Patel A, Bafna V. Kinsella M, et al. Among authors: bafna v. Nucleic Acids Res. 2014 Jul;42(13):8231-42. doi: 10.1093/nar/gku525. Epub 2014 Jun 17. Nucleic Acids Res. 2014. PMID: 24939897 Free PMC article.

8

InPhaDel: integrative shotgun and proximity-ligation sequencing to phase deletions with single nucleotide polymorphisms.

Patel A, Edge P, Selvaraj S, Bansal V, Bafna V. Patel A, et al. Among authors: bafna v. Nucleic Acids Res. 2016 Jul 8;44(12):e111. doi: 10.1093/nar/gkw281. Epub 2016 Apr 21. Nucleic Acids Res. 2016. PMID: 27105843 Free PMC article.

9

Reprever: resolving low-copy duplicated sequences using template driven assembly.

Kim S, Medvedev P, Paton TA, Bafna V. Kim S, et al. Among authors: bafna v. Nucleic Acids Res. 2013 Jul;41(12):e128. doi: 10.1093/nar/gkt339. Epub 2013 May 8. Nucleic Acids Res. 2013. PMID: 23658221 Free PMC article.

10

Expansion of the mycobacterial "PUPylome".

Watrous J, Burns K, Liu WT, Patel A, Hook V, Bafna V, Barry CE 3rd, Bark S, Dorrestein PC. Watrous J, et al. Among authors: bafna v. Mol Biosyst. 2010 Feb;6(2):376-85. doi: 10.1039/b916104j. Epub 2009 Nov 16. Mol Biosyst. 2010. PMID: 20094657 Free PMC article.

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