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Page 1
Chromosomal haplotypes by genetic phasing of human families.
Roach JC, Glusman G, Hubley R, Montsaroff SZ, Holloway AK, Mauldin DE, Srivastava D, Garg V, Pollard KS, Galas DJ, Hood L, Smit AF. Roach JC, et al. Am J Hum Genet. 2011 Sep 9;89(3):382-97. doi: 10.1016/j.ajhg.2011.07.023. Am J Hum Genet. 2011. PMID: 21855840 Free PMC article.
Analysis of genetic inheritance in a family quartet by whole-genome sequencing.
Roach JC, Glusman G, Smit AF, Huff CD, Hubley R, Shannon PT, Rowen L, Pant KP, Goodman N, Bamshad M, Shendure J, Drmanac R, Jorde LB, Hood L, Galas DJ. Roach JC, et al. Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10. Science. 2010. PMID: 20220176 Free PMC article.
Relationship estimation from whole-genome sequence data.
Li H, Glusman G, Hu H, Shankaracharya, Caballero J, Hubley R, Witherspoon D, Guthery SL, Mauldin DE, Jorde LB, Hood L, Roach JC, Huff CD. Li H, et al. Among authors: roach jc. PLoS Genet. 2014 Jan 30;10(1):e1004144. doi: 10.1371/journal.pgen.1004144. eCollection 2014 Jan. PLoS Genet. 2014. PMID: 24497848 Free PMC article.
Genetic mapping at 3-kilobase resolution reveals inositol 1,4,5-triphosphate receptor 3 as a risk factor for type 1 diabetes in Sweden.
Roach JC, Deutsch K, Li S, Siegel AF, Bekris LM, Einhaus DC, Sheridan CM, Glusman G, Hood L, Lernmark A, Janer M; Swedish Childhood Diabetes Study Group; Diabetes Incidence in Sweden Study Group. Roach JC, et al. Am J Hum Genet. 2006 Oct;79(4):614-27. doi: 10.1086/507876. Epub 2006 Aug 30. Am J Hum Genet. 2006. PMID: 16960798 Free PMC article.
Kaviar: an accessible system for testing SNV novelty.
Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC. Glusman G, et al. Among authors: roach jc. Bioinformatics. 2011 Nov 15;27(22):3216-7. doi: 10.1093/bioinformatics/btr540. Epub 2011 Sep 28. Bioinformatics. 2011. PMID: 21965822 Free PMC article.
A unified test of linkage analysis and rare-variant association for analysis of pedigree sequence data.
Hu H, Roach JC, Coon H, Guthery SL, Voelkerding KV, Margraf RL, Durtschi JD, Tavtigian SV, Shankaracharya, Wu W, Scheet P, Wang S, Xing J, Glusman G, Hubley R, Li H, Garg V, Moore B, Hood L, Galas DJ, Srivastava D, Reese MG, Jorde LB, Yandell M, Huff CD. Hu H, et al. Among authors: roach jc. Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18. Nat Biotechnol. 2014. PMID: 24837662 Free PMC article.
Mutations in NOTCH1 cause Adams-Oliver syndrome.
Stittrich AB, Lehman A, Bodian DL, Ashworth J, Zong Z, Li H, Lam P, Khromykh A, Iyer RK, Vockley JG, Baveja R, Silva ES, Dixon J, Leon EL, Solomon BD, Glusman G, Niederhuber JE, Roach JC, Patel MS. Stittrich AB, et al. Among authors: roach jc. Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14. Am J Hum Genet. 2014. PMID: 25132448 Free PMC article.
Whole-genome haplotyping approaches and genomic medicine.
Glusman G, Cox HC, Roach JC. Glusman G, et al. Among authors: roach jc. Genome Med. 2014 Sep 25;6(9):73. doi: 10.1186/s13073-014-0073-7. eCollection 2014. Genome Med. 2014. PMID: 25473435 Free PMC article.
87 results