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Items: 1 to 50 of 89

1.

NormExpression: An R Package to Normalize Gene Expression Data Using Evaluated Methods.

Wu Z, Liu W, Jin X, Ji H, Wang H, Glusman G, Robinson M, Liu L, Ruan J, Gao S.

Front Genet. 2019 Apr 30;10:400. doi: 10.3389/fgene.2019.00400. eCollection 2019.

2.

Clinical Data: Sources and Types, Regulatory Constraints, Applications.

Ahalt SC, Chute CG, Fecho K, Glusman G, Hadlock J, Taylor CO, Pfaff ER, Robinson PN, Solbrig H, Ta C, Tatonetti N, Weng C; Biomedical Data Translator Consortium.

Clin Transl Sci. 2019 Jul;12(4):329-333. doi: 10.1111/cts.12638. Epub 2019 May 9. No abstract available.

3.

Reproducible big data science: A case study in continuous FAIRness.

Madduri R, Chard K, D'Arcy M, Jung SC, Rodriguez A, Sulakhe D, Deutsch E, Funk C, Heavner B, Richards M, Shannon P, Glusman G, Price N, Kesselman C, Foster I.

PLoS One. 2019 Apr 11;14(4):e0213013. doi: 10.1371/journal.pone.0213013. eCollection 2019.

4.

Genomic and molecular characterization of preterm birth.

Knijnenburg TA, Vockley JG, Chambwe N, Gibbs DL, Humphries C, Huddleston KC, Klein E, Kothiyal P, Tasseff R, Dhankani V, Bodian DL, Wong WSW, Glusman G, Mauldin DE, Miller M, Slagel J, Elasady S, Roach JC, Kramer R, Leinonen K, Linthorst J, Baveja R, Baker R, Solomon BD, Eley G, Iyer RK, Maxwell GL, Bernard B, Shmulevich I, Hood L, Niederhuber JE.

Proc Natl Acad Sci U S A. 2019 Mar 19;116(12):5819-5827. doi: 10.1073/pnas.1716314116. Epub 2019 Mar 4.

5.

Author Correction: Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WSW, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LELM, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2018 Nov;50(11):1615. doi: 10.1038/s41588-018-0226-5.

PMID:
30291356
6.
7.

Reply to "Precision medicine in the clouds".

Magis AT, Earls JC, Glusman G, Omenn GS, Lovejoy JC, Price ND, Hood L.

Nat Biotechnol. 2018 Aug 6;36(8):680-682. doi: 10.1038/nbt.4211. No abstract available.

PMID:
30080845
8.

Novel metrics for quantifying bacterial genome composition skews.

Joesch-Cohen LM, Robinson M, Jabbari N, Lausted CG, Glusman G.

BMC Genomics. 2018 Jul 11;19(1):528. doi: 10.1186/s12864-018-4913-5.

9.

Whole genome sequence and comparative analysis of Borrelia burgdorferi MM1.

Jabbari N, Glusman G, Joesch-Cohen LM, Reddy PJ, Moritz RL, Hood L, Lausted CG.

PLoS One. 2018 Jun 11;13(6):e0198135. doi: 10.1371/journal.pone.0198135. eCollection 2018.

10.

Taking Systems Medicine to Heart.

Trachana K, Bargaje R, Glusman G, Price ND, Huang S, Hood LE.

Circ Res. 2018 Apr 27;122(9):1276-1289. doi: 10.1161/CIRCRESAHA.117.310999. Review.

11.

Mapping genetic variations to three-dimensional protein structures to enhance variant interpretation: a proposed framework.

Glusman G, Rose PW, Prlić A, Dougherty J, Duarte JM, Hoffman AS, Barton GJ, Bendixen E, Bergquist T, Bock C, Brunk E, Buljan M, Burley SK, Cai B, Carter H, Gao J, Godzik A, Heuer M, Hicks M, Hrabe T, Karchin R, Leman JK, Lane L, Masica DL, Mooney SD, Moult J, Omenn GS, Pearl F, Pejaver V, Reynolds SM, Rokem A, Schwede T, Song S, Tilgner H, Valasatava Y, Zhang Y, Deutsch EW.

Genome Med. 2017 Dec 18;9(1):113. doi: 10.1186/s13073-017-0509-y. Review.

12.

Ultrafast Comparison of Personal Genomes via Precomputed Genome Fingerprints.

Glusman G, Mauldin DE, Hood LE, Robinson M.

Front Genet. 2017 Sep 26;8:136. doi: 10.3389/fgene.2017.00136. eCollection 2017.

13.

Differences between the genomes of lymphoblastoid cell lines and blood-derived samples.

Joesch-Cohen LM, Glusman G.

Adv Genomics Genet. 2017;7:1-9. doi: 10.2147/AGG.S128824. Epub 2017 Feb 23.

14.

A Data-Rich Longitudinal Wellness Study for the Digital Age: Fixing a Broken Medical System Requires Data About Each Patient.

Glusman G.

IEEE Pulse. 2017 Jul-Aug;8(4):11-14. doi: 10.1109/MPUL.2016.2647038.

PMID:
28715306
15.

A wellness study of 108 individuals using personal, dense, dynamic data clouds.

Price ND, Magis AT, Earls JC, Glusman G, Levy R, Lausted C, McDonald DT, Kusebauch U, Moss CL, Zhou Y, Qin S, Moritz RL, Brogaard K, Omenn GS, Lovejoy JC, Hood L.

Nat Biotechnol. 2017 Aug;35(8):747-756. doi: 10.1038/nbt.3870. Epub 2017 Jul 17.

16.

Evolutionary history of Tibetans inferred from whole-genome sequencing.

Hu H, Petousi N, Glusman G, Yu Y, Bohlender R, Tashi T, Downie JM, Roach JC, Cole AM, Lorenzo FR, Rogers AR, Brunkow ME, Cavalleri G, Hood L, Alpatty SM, Prchal JT, Jorde LB, Robbins PA, Simonson TS, Huff CD.

PLoS Genet. 2017 Apr 27;13(4):e1006675. doi: 10.1371/journal.pgen.1006675. eCollection 2017 Apr.

17.

Identification of Organ-Enriched Protein Biomarkers of Acute Liver Injury by Targeted Quantitative Proteomics of Blood in Acetaminophen- and Carbon-Tetrachloride-Treated Mouse Models and Acetaminophen Overdose Patients.

Qin S, Zhou Y, Gray L, Kusebauch U, McEvoy L, Antoine DJ, Hampson L, Park KB, Campbell D, Caballero J, Glusman G, Yan X, Kim TK, Yuan Y, Wang K, Rowen L, Moritz RL, Omenn GS, Pirmohamed M, Hood L.

J Proteome Res. 2016 Oct 7;15(10):3724-3740. Epub 2016 Sep 19.

PMID:
27575953
18.

Predictive Big Data Analytics: A Study of Parkinson's Disease Using Large, Complex, Heterogeneous, Incongruent, Multi-Source and Incomplete Observations.

Dinov ID, Heavner B, Tang M, Glusman G, Chard K, Darcy M, Madduri R, Pa J, Spino C, Kesselman C, Foster I, Deutsch EW, Price ND, Van Horn JD, Ames J, Clark K, Hood L, Hampstead BM, Dauer W, Toga AW.

PLoS One. 2016 Aug 5;11(8):e0157077. doi: 10.1371/journal.pone.0157077. eCollection 2016.

19.

Parent-of-origin-specific signatures of de novo mutations.

Goldmann JM, Wong WS, Pinelli M, Farrah T, Bodian D, Stittrich AB, Glusman G, Vissers LE, Hoischen A, Roach JC, Vockley JG, Veltman JA, Solomon BD, Gilissen C, Niederhuber JE.

Nat Genet. 2016 Aug;48(8):935-9. doi: 10.1038/ng.3597. Epub 2016 Jun 20. Erratum in: Nat Genet. 2018 Nov;50(11):1615.

PMID:
27322544
20.

Genomic architecture of inflammatory bowel disease in five families with multiple affected individuals.

Stittrich AB, Ashworth J, Shi M, Robinson M, Mauldin D, Brunkow ME, Biswas S, Kim JM, Kwon KS, Jung JU, Galas D, Serikawa K, Duerr RH, Guthery SL, Peschon J, Hood L, Roach JC, Glusman G.

Hum Genome Var. 2016 Jan 7;3:15060. doi: 10.1038/hgv.2015.60. eCollection 2016.

21.

Personalized nutrition through big data.

McDonald D, Glusman G, Price ND.

Nat Biotechnol. 2016 Feb;34(2):152-4. doi: 10.1038/nbt.3476. No abstract available.

PMID:
26849520
22.

A novel Fanconi anaemia subtype associated with a dominant-negative mutation in RAD51.

Ameziane N, May P, Haitjema A, van de Vrugt HJ, van Rossum-Fikkert SE, Ristic D, Williams GJ, Balk J, Rockx D, Li H, Rooimans MA, Oostra AB, Velleuer E, Dietrich R, Bleijerveld OB, Maarten Altelaar AF, Meijers-Heijboer H, Joenje H, Glusman G, Roach J, Hood L, Galas D, Wyman C, Balling R, den Dunnen J, de Winter JP, Kanaar R, Gelinas R, Dorsman JC.

Nat Commun. 2015 Dec 18;6:8829. doi: 10.1038/ncomms9829.

23.

Crowdsourced direct-to-consumer genomic analysis of a family quartet.

Corpas M, Valdivia-Granda W, Torres N, Greshake B, Coletta A, Knaus A, Harrison AP, Cariaso M, Moran F, Nielsen F, Swan D, Weiss Solís DY, Krawitz P, Schacherer F, Schols P, Yang H, Borry P, Glusman G, Robinson PN.

BMC Genomics. 2015 Nov 7;16:910. doi: 10.1186/s12864-015-1973-7.

24.

Whole-genome sequencing suggests a chemokine gene cluster that modifies age at onset in familial Alzheimer's disease.

Lalli MA, Bettcher BM, Arcila ML, Garcia G, Guzman C, Madrigal L, Ramirez L, Acosta-Uribe J, Baena A, Wojta KJ, Coppola G, Fitch R, de Both MD, Huentelman MJ, Reiman EM, Brunkow ME, Glusman G, Roach JC, Kao AW, Lopera F, Kosik KS.

Mol Psychiatry. 2015 Nov;20(11):1294-300. doi: 10.1038/mp.2015.131. Epub 2015 Sep 1.

25.

Correction: Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 Aug 31;10(8):e0137370. doi: 10.1371/journal.pone.0137370. eCollection 2015. No abstract available.

26.

Heterozygous Loss-of-Function Mutations in DLL4 Cause Adams-Oliver Syndrome.

Meester JA, Southgate L, Stittrich AB, Venselaar H, Beekmans SJ, den Hollander N, Bijlsma EK, Helderman-van den Enden A, Verheij JB, Glusman G, Roach JC, Lehman A, Patel MS, de Vries BB, Ruivenkamp C, Itin P, Prescott K, Clarke S, Trembath R, Zenker M, Sukalo M, Van Laer L, Loeys B, Wuyts W.

Am J Hum Genet. 2015 Sep 3;97(3):475-82. doi: 10.1016/j.ajhg.2015.07.015. Epub 2015 Aug 20.

27.

Big biomedical data as the key resource for discovery science.

Toga AW, Foster I, Kesselman C, Madduri R, Chard K, Deutsch EW, Price ND, Glusman G, Heavner BD, Dinov ID, Ames J, Van Horn J, Kramer R, Hood L.

J Am Med Inform Assoc. 2015 Nov;22(6):1126-31. doi: 10.1093/jamia/ocv077. Epub 2015 Jul 21.

28.

Alternating Hemiplegia of Childhood: Retrospective Genetic Study and Genotype-Phenotype Correlations in 187 Subjects from the US AHCF Registry.

Viollet L, Glusman G, Murphy KJ, Newcomb TM, Reyna SP, Sweney M, Nelson B, Andermann F, Andermann E, Acsadi G, Barbano RL, Brown C, Brunkow ME, Chugani HT, Cheyette SR, Collins A, DeBrosse SD, Galas D, Friedman J, Hood L, Huff C, Jorde LB, King MD, LaSalle B, Leventer RJ, Lewelt AJ, Massart MB, Mérida MR 2nd, Ptáček LJ, Roach JC, Rust RS, Renault F, Sanger TD, Sotero de Menezes MA, Tennyson R, Uldall P, Zhang Y, Zupanc M, Xin W, Silver K, Swoboda KJ.

PLoS One. 2015 May 21;10(5):e0127045. doi: 10.1371/journal.pone.0127045. eCollection 2015. Erratum in: PLoS One. 2015;10(8):e0137370.

29.

Identification of copy number variants in whole-genome data using Reference Coverage Profiles.

Glusman G, Severson A, Dhankani V, Robinson M, Farrah T, Mauldin DE, Stittrich AB, Ament SA, Roach JC, Brunkow ME, Bodian DL, Vockley JG, Shmulevich I, Niederhuber JE, Hood L.

Front Genet. 2015 Feb 17;6:45. doi: 10.3389/fgene.2015.00045. eCollection 2015.

30.

Rare variants in neuronal excitability genes influence risk for bipolar disorder.

Ament SA, Szelinger S, Glusman G, Ashworth J, Hou L, Akula N, Shekhtman T, Badner JA, Brunkow ME, Mauldin DE, Stittrich AB, Rouleau K, Detera-Wadleigh SD, Nurnberger JI Jr, Edenberg HJ, Gershon ES, Schork N; Bipolar Genome Study, Price ND, Gelinas R, Hood L, Craig D, McMahon FJ, Kelsoe JR, Roach JC.

Proc Natl Acad Sci U S A. 2015 Mar 17;112(11):3576-81. doi: 10.1073/pnas.1424958112. Epub 2015 Feb 17.

31.

Systems genomics evaluation of the SH-SY5Y neuroblastoma cell line as a model for Parkinson's disease.

Krishna A, Biryukov M, Trefois C, Antony PM, Hussong R, Lin J, Heinäniemi M, Glusman G, Köglsberger S, Boyd O, van den Berg BH, Linke D, Huang D, Wang K, Hood L, Tholey A, Schneider R, Galas DJ, Balling R, May P.

BMC Genomics. 2014 Dec 20;15:1154. doi: 10.1186/1471-2164-15-1154.

32.

Whole-genome haplotyping approaches and genomic medicine.

Glusman G, Cox HC, Roach JC.

Genome Med. 2014 Sep 25;6(9):73. doi: 10.1186/s13073-014-0073-7. eCollection 2014.

33.

Whole-genome sequencing of the world's oldest people.

Gierman HJ, Fortney K, Roach JC, Coles NS, Li H, Glusman G, Markov GJ, Smith JD, Hood L, Coles LS, Kim SK.

PLoS One. 2014 Nov 12;9(11):e112430. doi: 10.1371/journal.pone.0112430. eCollection 2014.

34.

Mutations in STX1B, encoding a presynaptic protein, cause fever-associated epilepsy syndromes.

Schubert J, Siekierska A, Langlois M, May P, Huneau C, Becker F, Muhle H, Suls A, Lemke JR, de Kovel CG, Thiele H, Konrad K, Kawalia A, Toliat MR, Sander T, Rüschendorf F, Caliebe A, Nagel I, Kohl B, Kecskés A, Jacmin M, Hardies K, Weckhuysen S, Riesch E, Dorn T, Brilstra EH, Baulac S, Møller RS, Hjalgrim H, Koeleman BP; EuroEPINOMICS RES Consortium, Jurkat-Rott K, Lehman-Horn F, Roach JC, Glusman G, Hood L, Galas DJ, Martin B, de Witte PA, Biskup S, De Jonghe P, Helbig I, Balling R, Nürnberg P, Crawford AD, Esguerra CV, Weber YG, Lerche H.

Nat Genet. 2014 Dec;46(12):1327-32. doi: 10.1038/ng.3130. Epub 2014 Nov 2.

PMID:
25362483
35.

A gain-of-function mutation in TRPV3 causes focal palmoplantar keratoderma in a Chinese family.

He Y, Zeng K, Zhang X, Chen Q, Wu J, Li H, Zhou Y, Glusman G, Roach J, Etheridge A, Qing S, Tian Q, Lee I, Tian X, Wang X, Wu Z, Hood L, Ding Y, Wang K.

J Invest Dermatol. 2015 Mar;135(3):907-909. doi: 10.1038/jid.2014.429. Epub 2014 Oct 6. No abstract available.

36.

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.

Am J Hum Genet. 2014 Sep 4;95(3):275-84. doi: 10.1016/j.ajhg.2014.07.011. Epub 2014 Aug 14.

37.

Diffuse angiopathy in Adams-Oliver syndrome associated with truncating DOCK6 mutations.

Lehman A, Stittrich AB, Glusman G, Zong Z, Li H, Eydoux P, Senger C, Lyons C, Roach JC, Patel M.

Am J Med Genet A. 2014 Oct;164A(10):2656-62. doi: 10.1002/ajmg.a.36685. Epub 2014 Aug 4.

38.

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.

Nat Biotechnol. 2014 Jul;32(7):663-9. doi: 10.1038/nbt.2895. Epub 2014 May 18.

39.

Realistic artificial DNA sequences as negative controls for computational genomics.

Caballero J, Smit AF, Hood L, Glusman G.

Nucleic Acids Res. 2014 Jul;42(12):e99. doi: 10.1093/nar/gku356. Epub 2014 May 6.

40.

An international effort towards developing standards for best practices in analysis, interpretation and reporting of clinical genome sequencing results in the CLARITY Challenge.

Brownstein CA, Beggs AH, Homer N, Merriman B, Yu TW, Flannery KC, DeChene ET, Towne MC, Savage SK, Price EN, Holm IA, Luquette LJ, Lyon E, Majzoub J, Neupert P, McCallie D Jr, Szolovits P, Willard HF, Mendelsohn NJ, Temme R, Finkel RS, Yum SW, Medne L, Sunyaev SR, Adzhubey I, Cassa CA, de Bakker PI, Duzkale H, Dworzyński P, Fairbrother W, Francioli L, Funke BH, Giovanni MA, Handsaker RE, Lage K, Lebo MS, Lek M, Leshchiner I, MacArthur DG, McLaughlin HM, Murray MF, Pers TH, Polak PP, Raychaudhuri S, Rehm HL, Soemedi R, Stitziel NO, Vestecka S, Supper J, Gugenmus C, Klocke B, Hahn A, Schubach M, Menzel M, Biskup S, Freisinger P, Deng M, Braun M, Perner S, Smith RJ, Andorf JL, Huang J, Ryckman K, Sheffield VC, Stone EM, Bair T, Black-Ziegelbein EA, Braun TA, Darbro B, DeLuca AP, Kolbe DL, Scheetz TE, Shearer AE, Sompallae R, Wang K, Bassuk AG, Edens E, Mathews K, Moore SA, Shchelochkov OA, Trapane P, Bossler A, Campbell CA, Heusel JW, Kwitek A, Maga T, Panzer K, Wassink T, Van Daele D, Azaiez H, Booth K, Meyer N, Segal MM, Williams MS, Tromp G, White P, Corsmeier D, Fitzgerald-Butt S, Herman G, Lamb-Thrush D, McBride KL, Newsom D, Pierson CR, Rakowsky AT, Maver A, Lovrečić L, Palandačić A, Peterlin B, Torkamani A, Wedell A, Huss M, Alexeyenko A, Lindvall JM, Magnusson M, Nilsson D, Stranneheim H, Taylan F, Gilissen C, Hoischen A, van Bon B, Yntema H, Nelen M, Zhang W, Sager J, Zhang L, Blair K, Kural D, Cariaso M, Lennon GG, Javed A, Agrawal S, Ng PC, Sandhu KS, Krishna S, Veeramachaneni V, Isakov O, Halperin E, Friedman E, Shomron N, Glusman G, Roach JC, Caballero J, Cox HC, Mauldin D, Ament SA, Rowen L, Richards DR, San Lucas FA, Gonzalez-Garay ML, Caskey CT, Bai Y, Huang Y, Fang F, Zhang Y, Wang Z, Barrera J, Garcia-Lobo JM, González-Lamuño D, Llorca J, Rodriguez MC, Varela I, Reese MG, De La Vega FM, Kiruluta E, Cargill M, Hart RK, Sorenson JM, Lyon GJ, Stevenson DA, Bray BE, Moore BM, Eilbeck K, Yandell M, Zhao H, Hou L, Chen X, Yan X, Chen M, Li C, Yang C, Gunel M, Li P, Kong Y, Alexander AC, Albertyn ZI, Boycott KM, Bulman DE, Gordon PM, Innes AM, Knoppers BM, Majewski J, Marshall CR, Parboosingh JS, Sawyer SL, Samuels ME, Schwartzentruber J, Kohane IS, Margulies DM.

Genome Biol. 2014 Mar 25;15(3):R53. doi: 10.1186/gb-2014-15-3-r53.

41.

Accurate and robust prediction of genetic relationship from whole-genome sequences.

Li H, Glusman G, Huff C, Caballero J, Roach JC.

PLoS One. 2014 Feb 28;9(2):e85437. doi: 10.1371/journal.pone.0085437. eCollection 2014.

42.

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.

PLoS Genet. 2014 Jan 30;10(1):e1004144. doi: 10.1371/journal.pgen.1004144. eCollection 2014 Jan.

43.

Origin of the PSEN1 E280A mutation causing early-onset Alzheimer's disease.

Lalli MA, Cox HC, Arcila ML, Cadavid L, Moreno S, Garcia G, Madrigal L, Reiman EM, Arcos-Burgos M, Bedoya G, Brunkow ME, Glusman G, Roach JC, Hood L, Kosik KS, Lopera F.

Alzheimers Dement. 2014 Oct;10(5 Suppl):S277-S283.e10. doi: 10.1016/j.jalz.2013.09.005. Epub 2013 Nov 13.

44.

Optimal scaling of digital transcriptomes.

Glusman G, Caballero J, Robinson M, Kutlu B, Hood L.

PLoS One. 2013 Nov 6;8(11):e77885. doi: 10.1371/journal.pone.0077885. eCollection 2013. Erratum in: PLoS One. 2014;9(1). doi:10.1371/annotation/8b05a9ab-c8ad-4276-a851-1e265055fb65. PLoS One. 2014;9(3):e93244.

45.

Clinical applications of sequencing take center stage.

Glusman G.

Genome Biol. 2013 Mar 28;14(3):303. doi: 10.1186/gb-2013-14-3-303.

46.

P4 medicine: how systems medicine will transform the healthcare sector and society.

Flores M, Glusman G, Brogaard K, Price ND, Hood L.

Per Med. 2013;10(6):565-576.

47.

Low budget analysis of Direct-To-Consumer genomic testing familial data.

Glusman G, Cariaso M, Jimenez R, Swan D, Greshake B, Bhak J, Logan DW, Corpas M.

F1000Res. 2012 Jul 16;1:3. doi: 10.12688/f1000research.1-3.v1. eCollection 2012.

48.

Kaviar: an accessible system for testing SNV novelty.

Glusman G, Caballero J, Mauldin DE, Hood L, Roach JC.

Bioinformatics. 2011 Nov 15;27(22):3216-7. doi: 10.1093/bioinformatics/btr540. Epub 2011 Sep 28.

49.

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.

Am J Hum Genet. 2011 Sep 9;89(3):382-97. doi: 10.1016/j.ajhg.2011.07.023.

50.

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.

Science. 2010 Apr 30;328(5978):636-9. doi: 10.1126/science.1186802. Epub 2010 Mar 10.

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