Works matching IS 14739542 AND DT 2015 AND VI 9

Results: 42

Integrative genomic analysis reveals functional diversification of APOBEC gene family in breast cancer.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0056-9

By:

Yanfeng Zhang;
Delahanty, Ryan;
Xingyi Guo;
Wei Zheng;
Jirong Long

Publication type:

Article

Next-generation sequencing using a pre-designed gene panel for the molecular diagnosis of congenital disorders in pediatric patients.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0055-x

By:

P. Lim, Eileen C.;
Brett, Maggie;
Lai, Angeline H. M.;
Siew-Peng Lee;
Ee-Shien Tan;
Jamuar, Saumya S.;
Ng, Ivy S. L.;
Ene-Choo Tan

Publication type:

Article

Update of the human and mouse Fanconi anemia genes.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0054-y

By:

Hongbin Dong;
Nebert, Daniel W.;
Bruford, Elspeth A.;
Thompson, David C.;
Joenje, Hans;
Vasiliou, Vasilis

Publication type:

Article

Copy number variation in CEP57L1 predisposes to congenital absence of bilateral ACL and PCL ligaments.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0053-z

By:

Yichuan Liu;
Yun Li;
March, Michael E.;
Nguyen Kenny;
Kexiang Xu;
Fengxiang Wang;
Yiran Guo;
Keating, Brendan;
Glessner, Joseph;
Jiankang Li;
Ganley, Theodore J.;
Jianguo Zhang;
Deardorff, Matthew A.;
Xun Xu;
Hakon Hakonarson

Publication type:

Article

HDAC3 role in medication consumption in medication overuse headache patients: a pilot study.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0051-1

By:

Pisanu, Claudia;
Caproni, Stefano;
Congiu, Donatella;
Cupini, Letizia M.;
Squassina, Alessio;
Patrinos, George P.;
Corbelli, Ilenia;
Calabresi, Paolo;
Del Zompo, Maria;
Sarchielli, Paola

Publication type:

Article

Genomics is changing personal healthcare and medicine: the dawn of iPH (individualized preventive healthcare).

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0052-0

By:

Mehrian-Shai, Ruty;
Reichardt, Juergen K. V.

Publication type:

Article

A survey of computational tools for downstream analysis of proteomic and other omic datasets.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0050-2

By:

Karimpour-Fard, Anis;
Epperson, L. Elaine;
Hunter, Lawrence E.

Publication type:

Article

Cancer classification in the genomic era: five contemporary problems.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0049-8

By:

Song, Qingxuan;
Merajver, Sofia D.;
Li, Jun Z.

Publication type:

Article

Integrative DNA methylation and gene expression analysis to assess the universality of the CpG island methylator phenotype.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0048-9

By:

Moarii, Matahi;
Reyal, Fabien;
Vert, Jean-Philippe

Publication type:

Article

Remotely acting SMCHD1 gene regulatory elements: in silico prediction and identification of potential regulatory variants in patients with FSHD.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0047-x

By:

Mayes, Mary B.;
Morgan, Taniesha;
Winston, Jincy;
Buxton, Daniel S.;
Kamat, Mihir Anant;
Smith, Debbie;
Williams, Maggie;
Martin, Rebecca L.;
Kleinjan, Dirk A.;
Cooper, David N.;
Upadhyaya, Meena;
Chuzhanova, Nadia

Publication type:

Article

Eyeing the Cyr61/CTGF/NOV (CCN) group of genes in development and diseases: highlights of their structural likenesses and functional dissimilarities.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0046-y

By:

Krupska, Izabela;
Bruford, Elspeth A.;
Chaqour, Brahim

Publication type:

Article

MATWIN: bridging the gap between academic research and industry.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0045-z

By:

Reiffers, Josy;
Robert, Lucia

Publication type:

Article

Copy number alterations detected by whole-exome and whole-genome sequencing of esophageal adenocarcinoma.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0044-0

By:

Xiaoyu Wang;
Xiaohong Li;
Yichen Cheng;
Xin Sun;
Xibin Sun;
Self, Steve;
Kooperberg, Charles;
Dai, James Y.

Publication type:

Article

Trans-species polymorphism in humans and the great apes is generally maintained by balancing selection that modulates the host immune response.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0043-1

By:

Azevedo, Luisa;
Serrano, Catarina;
Amorim, Antonio;
Cooper, David N.

Publication type:

Article

Performance evaluation of indel calling tools using real short-read data.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0042-2

By:

Hasan, Mohammad Shabbir;
Xiaowei Wu;
Liqing Zhang

Publication type:

Article

Whole-genome sequencing targets drug-resistant bacterial infections.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0037-z

By:

Punina, N. V.;
Makridakis, N. M.;
Remnev, M. A.;
Topunov, A. F.

Publication type:

Article

Performance evaluation of indel calling tools using real short-read data.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 20, doi. 10.1186/s40246-015-0042-2

By:

Hasan, Mohammad Shabbir;
Wu, Xiaowei;
Zhang, Liqing

Publication type:

Article

Epigenetic inheritance and the missing heritability.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0041-3

By:

Trerotola, Marco;
Relli, Valeria;
Simeone, Pasquale;
Alberti, Saverio

Publication type:

Article

Predicting the combined effect of multiple genetic variants.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0040-4

By:

Mingming Liu;
Watson, Layne T.;
Liqing Zhang

Publication type:

Article

Fine-scale population structure of Malays in Peninsular Malaysia and Singapore and implications for association studies.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0039-x

By:

Boon-Peng Hoh;
Lian Deng;
Julia-Ashazila, Mat Jusoh;
Zuraihan, Zakaria;
Nur-Hasnah, Ma'amor;
Nur-Shafawati, Ab Rajab;
Wan Isa Hatin;
Endom, Ismail;
Zilfalil, Bin Alwi;
Yusoff Khalid;
Shuhua Xu

Publication type:

Article

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0038-y

By:

Li, Mindy H.;
Abrudan, Jenica L.;
Dulik, Matthew C.;
Sasson, Ariella;
Brunton, Joshua;
Jayaraman, Vijayakumar;
Dugan, Noreen;
Haley, Danielle;
Rajagopalan, Ramakrishnan;
Biswas, Sawona;
Sarmady, Mahdi;
DeChene, Elizabeth T.;
Deardorff, Matthew A.;
Wilkens, Alisha;
Noon, Sarah E.;
Scarano, Maria I.;
Santani, Avni B.;
White, Peter S.;
Pennington, Jeffrey;
Conlin, Laura K.

Publication type:

Article

Identification of cancer predisposition variants in apparently healthy individuals using a next-generation sequencing-based family genomics approach.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0034-2

By:

Karageorgos, Ioannis;
Mizzi, Clint;
Giannopoulou, Efstathia;
Pavlidis, Cristiana;
Peters, Brock A.;
Zagoriti, Zoi;
Stenson, Peter D.;
Mitropoulos, Konstantinos;
Borg, Joseph;
Kalofonos, Haralabos P.;
Drmanac, Radoje;
Stubbs, Andrew;
van der Spek, Peter;
Cooper, David N.;
Katsila, Theodora;
Patrinos, George P.

Publication type:

Article

Epigenetic inheritance and the missing heritability.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 17, doi. 10.1186/s40246-015-0041-3

By:

Trerotola, Marco;
Relli, Valeria;
Simeone, Pasquale;
Alberti, Saverio

Publication type:

Article

Fine-scale population structure of Malays in Peninsular Malaysia and Singapore and implications for association studies.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 16, doi. 10.1186/s40246-015-0039-x

By:

Boon-Peng Hoh;
Lian Deng;
Julia-Ashazila, Mat Jusoh;
Zuraihan, Zakaria;
Nur-Hasnah, Ma’amor;
Nur‐Shafawati, Ab Rajab;
Hatin, Wan Isa;
Endom, Ismail;
Zilfalil, Bin Alwi;
Khalid, Yusoff;
Shuhua Xu

Publication type:

Article

Utility and limitations of exome sequencing as a genetic diagnostic tool for conditions associated with pediatric sudden cardiac arrest/sudden cardiac death

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 15, doi. 10.1186/s40246-015-0038-y

By:

Li, Mindy H.;
Abrudan, Jenica L.;
Dulik, Matthew C.;
Sasson, Ariella;
Brunton, Joshua;
Jayaraman, Vijayakumar;
Dugan, Noreen;
Haley, Danielle;
Rajagopalan, Ramakrishnan;
Biswas, Sawona;
Sarmady, Mahdi;
DeChene, Elizabeth T.;
Deardorff, Matthew A.;
Wilkens, Alisha;
Noon, Sarah E.;
Scarano, Maria I.;
Santani, Avni B.;
White, Peter S.;
Pennington, Jeffrey;
Conlin, Laura K.

Publication type:

Article

SIRT1 affects DNA methylation of polycomb group protein target genes, a hotspot of the epigenetic shift observed in ageing.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0036-0

By:

Wakeling, Luisa A.;
Ions, Laura J.;
Escolme, Suzanne M.;
Cockell, Simon J.;
Su, Tianhong;
Dey, Madhurima;
Hampton, Emily V.;
Jenkins, Gail;
Wainwright, Linda J.;
McKay, Jill A.;
Ford, Dianne

Publication type:

Article

Genomics in the renal clinic - translating nephrogenetics for clinical practice.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0035-1

By:

Mallett, Andrew;
Corney, Christopher;
McCarthy, Hugh;
Alexander, Stephen I.;
Healy, Helen

Publication type:

Article

Success stories in genomic medicine from resource-limited countries.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0033-3

By:

Mitropoulos, Konstantinos;
Jaibeji, Hayat Al;
Forero, Diego A.;
Laissue, Paul;
Wonkam, Ambroise;
Lopez-Correa, Catalina;
Mohamed, Zahurin;
Chantratita, Wasun;
Lee, Ming Ta Michael;
Llerena, Adrian;
Brand, Angela;
Ali, Bassam R.;
Patrinos, George P.

Publication type:

Article

Is the genomic translational pipeline being disrupted?

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0032-4

By:

Williams, Marc S.

Publication type:

Article

Clinical application of next-generation sequencing for Mendelian diseases.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0031-5

By:

Jamuar, Saumya Shekhar;
Tan, Ene-Choo

Publication type:

Article

Prediction of complex human diseases from pathway-focused candidate markers by joint estimation of marker effects: case of chronic fatigue syndrome.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0030-6

By:

Bhattacharjee, Madhuchhanda;
Rajeevan, Mangalathu S.;
Sillanpää, Mikko J.

Publication type:

Article

Complement regulator CD46: genetic variants and disease associations.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0029-z

By:

Liszewski, M. Kathryn;
Atkinson, John P.

Publication type:

Article

Genomics in the renal clinic - translating nephrogenetics for clinical practice

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 13, doi. 10.1186/s40246-015-0035-1

By:

Mallett, Andrew;
Corney, Christopher;
McCarthy, Hugh;
Alexander, Stephen I.;
Healy, Helen

Publication type:

Article

Whole-exome sequencing identifies de novo mutation in the COL1A1 gene to underlie the severe osteogenesis imperfecta.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0028-0

By:

Maasalu, Katre;
Nikopensius, Tiit;
Kõks, Sulev;
Nõukas, Margit;
Kals, Mart;
Prans, Ele;
Zhytnik, Lidiia;
Metspalu, Andres;
Märtson, Aare

Publication type:

Article

Comparative sequence- and structure-inspired drug design for PilF protein of Neisseria meningitidis.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0027-1

By:

Mehta, Abijeet Singh;
Snigdha, Kirti;
Potukuchi, M. Sharada;
Tsonis, Panagiotis A.

Publication type:

Article

Comparative sequence- and structure-inspired drug design for PilF protein of Neisseria meningitidis.

Published in:

Human Genomics, 2015, v. 9, p. 1, doi. 10.1186/s40246-015-0027-1

By:

Mehta, Abijeet Singh;
Snigdha, Kirti;
Potukuchi, M. Sharada;
Tsonis, Panagiotis A.

Publication type:

Article

Reviewer acknowledgement 2015.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 4, doi. 10.1186/s40246-015-0026-2

By:

Vasiliou, Vasilis

Publication type:

Article

Evaluation of copy number variation and gene expression in neurofibromatosis type-1-associated malignant peripheral nerve sheath tumours.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0025-3

By:

Thomas, Laura E.;
Winston, Jincy;
Rad, Ellie;
Mort, Matthew;
Dodd, Kayleigh M.;
Tee, Andrew R.;
McDyer, Fionnuala;
Moore, Stephen;
Cooper, David N.;
Upadhyaya, Meena

Publication type:

Article

Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-015-0024-4

By:

Suqin Liu;
Hongjiang Wang;
Lizhi Zhang;
Chuanning Tang;
Lindsey Jones;
Hua Ye;
Liying Ban;
Aman Wang;
Zhiyuan Liu;
Feng Lou;
Dandan Zhang;
Hong Sun;
Haichao Dong;
Guangchun Zhang;
Zhishou Dong;
Baishuai Guo;
He Yan;
Chaowei Yan;
Lu Wang;
Ziyi Su

Publication type:

Article

Rapid detection of genetic mutations in individual breast cancer patients by next-generation DNA sequencing.

Published in:

Human Genomics, 2015, v. 9, n. 2, p. 1, doi. 10.1186/s40246-015-0024-4

By:

Suqin Liu;
Hongjiang Wang;
Lizhi Zhang;
Chuanning Tang;
Lindsey Jones;
Hua Ye;
Liying Ban;
Aman Wang;
Zhiyuan Liu;
Feng Lou;
Dandan Zhang;
Hong Sun;
Haichao Dong;
Guangchun Zhang;
Zhishou Dong;
Baishuai Guo;
He Yan;
Chaowei Yan;
Lu Wang;
Ziyi Su

Publication type:

Article

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-014-0023-x

By:

Mersha, Tesfaye B;
Abebe, Tilahun

Publication type:

Article

Self-reported race/ethnicity in the age of genomic research: its potential impact on understanding health disparities.

Published in:

Human Genomics, 2015, v. 9, n. 1, p. 1, doi. 10.1186/s40246-014-0023-x

By:

Mersha, Tesfaye B.;
Abebe, Tilahun

Publication type:

Article