Volume 5; Issue 1

Main
npj Genomic Medicine
Volume 5; Issue 1

npj Genomic Medicine

Volume 5; Issue 1

1

The impact of adjusting for baseline in pharmacogenomic genome-wide association studies of quantitative change

Oni-Orisan, Akinyemi, Haldar, Tanushree, Ranatunga, Dilrini K., Medina, Marisa W., Schaefer, Catherine, Krauss, Ronald M., Iribarren, Carlos, Risch, Neil, Hoffmann, Thomas J.

Journal:

npj Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 889 KB

english, 2020

2

Familial/inherited cancer syndrome: a focus on the highly consanguineous Arab population

AlHarthi, Fawz S., Qari, Alya, Edress, Alaa, Abedalthagafi, Malak

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.01 MB

2020

3

Evidence for an ancient BRCA1 pathogenic variant in inherited breast cancer patients from Senegal

Ndiaye, Rokhaya, Diop, Jean Pascal Demba, Bourdon-Huguenin, Violaine, Dem, Ahmadou, Diouf, Doudou, Dieng, Mamadou Moustapha, Diop, Pape Saloum, Kane Gueye, Serigne Modou, Ba, Seydi Abdoul, Dia, Yacoub

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.19 MB

2020

4

Allele-specific miRNA-binding analysis identifies candidate target genes for breast cancer risk

Jacinta-Fernandes, Ana, Xavier, Joana M., Magno, Ramiro, Lage, Joel G., Maia, Ana-Teresa

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.38 MB

2020

5

Single-cell sperm transcriptomes and variants from fathers of children with and without autism spectrum disorder

Tomoiaga, Delia, Aguiar-Pulido, Vanessa, Shrestha, Shristi, Feinstein, Paul, Levy, Shawn E., Mason, Christopher E., Rosenfeld, Jeffrey A.

Journal:

npj Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 2.81 MB

english, 2020

6

Evaluating the promise of inclusion of African ancestry populations in genomics

Bentley, Amy R., Callier, Shawneequa L., Rotimi, Charles N.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 758 KB

2020

7

The special considerations of gene therapy for mitochondrial diseases

Slone, Jesse, Huang, Taosheng

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 3.02 MB

2020

8

Significant out-of-sample classification from methylation profile scoring for amyotrophic lateral sclerosis

Nabais, Marta F., Lin, Tian, Benyamin, Beben, Williams, Kelly L., Garton, Fleur C., Vinkhuyzen, Anna A. E., Zhang, Futao, Vallerga, Costanza L., Restuadi, Restuadi, Freydenzon, Anna, Zwamborn, Ramona

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.71 MB

2020

9

FHIR Genomics: enabling standardization for precision medicine use cases

Alterovitz, Gil, Heale, Bret, Jones, James, Kreda, David, Lin, Fan, Liu, Lei, Liu, Xin, Mandl, Kenneth D., Poloway, David W., Ramoni, Rachel, Wagner, Alex, Warner, Jeremy L.

Journal:

npj Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 1.22 MB

english, 2020

10

Emerging strategies to bridge the gap between pharmacogenomic research and its clinical implementation

Lauschke, Volker M., Ingelman-Sundberg, Magnus

Journal:

npj Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 1.02 MB

english, 2020

11

Whole slide images reflect DNA methylation patterns of human tumors

Zheng, Hong, Momeni, Alexandre, Cedoz, Pierre-Louis, Vogel, Hannes, Gevaert, Olivier

Journal:

npj Genomic Medicine

Year:

2020

Language:

english

File:

PDF, 2.15 MB

english, 2020

12

Concurrent germline and somatic pathogenic BAP1 variants in a patient with metastatic bladder cancer

Tesch, Megan E., Pater, Justin A., Vandekerkhove, Gillian, Wang, Gang, Binnington, Kristin, So, Alan I., Wyatt, Alexander W., Eigl, Bernhard J.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 889 KB

2020

13

MACROD2 deficiency promotes hepatocellular carcinoma growth and metastasis by activating GSK-3Î²/Î²-catenin signaling

Zhou, Zheng-Jun, Luo, Chu-Bin, Xin, Hao-Yang, Hu, Zhi-Qiang, Zhu, Gui-Qi, Li, Jia, Zhou, Shao-Lai

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 6.78 MB

2020

14

ATP7B variant c.1934Tâ>âG p.Met645Arg causes Wilson disease by promoting exon 6 skipping

Merico, Daniele, Spickett, Carl, OâHara, Matthew, Kakaradov, Boyko, Deshwar, Amit G., Fradkin, Phil, Gandhi, Shreshth, Gao, Jiexin, Grant, Solomon, Kron, Ken, Schmitges, Frank W., Shalev, Zvi, Sun,

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 772 KB

2020

15

Erlotinib sensitivity of MAPK1p.D321N mutation in head and neck squamous cell carcinoma

Ngan, Hoi-Lam, Poon, Peony Hiu Yan, Su, Yu-Xiong, Chan, Jason Ying Kuen, Lo, Kwok-Wai, Yeung, Chun Kit, Liu, Yuchen, Wong, Eileen, Li, Hui, Lau, Chin Wang, Piao, Wenying, Lui, Vivian Wai Yan

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.77 MB

2020

16

Genes and genomes and unnecessary complexity in precision medicine

Singh, Rama S., Gupta, Bhagwati P.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 748 KB

2020

17

Clinical utility of 24-h rapid trio-exome sequencing for critically ill infants

Wang, Huijun, Qian, Yanyan, Lu, Yulan, Qin, Qian, Lu, Guoping, Cheng, Guoqiang, Zhang, Ping, Yang, Lin, Wu, Bingbing, Zhou, Wenhao

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 630 KB

2020

18

A glioneuronal tumor with CLIP2-MET fusion

Chowdhury, Tamrin, Lee, Yeajina, Kim, Sojin, Yu, Hyeon Jong, Ji, So Young, Bae, Jeong Mo, Won, Jae Kyung, Shin, Joo Heon, Weinberger, Daniel R., Choi, Seung Hong, Park, Chul-Kee, Kim, Jong-Il, Park, S

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 2.76 MB

2020

19

MutSpot: detection of non-coding mutation hotspots in cancer genomes

Guo, Yu Amanda, Chang, Mei Mei, Skanderup, Anders Jacobsen

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.53 MB

2020

20

Persistent STAG2 mutation despite multimodal therapy in recurrent pediatric glioblastoma

Hong, Christopher S., Vasquez, Juan C., Kundishora, Adam J., Elsamadicy, Aladine A., Beckta, Jason M., Sule, Amrita, Marks, Asher M., Leelatian, Nalin, Huttner, Anita, Bindra, Ranjit S., DiLuna, Micha

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 890 KB

2020

21

19p loss is significantly enriched in older age neuroblastoma patients and correlates with poor prognosis

Lasorsa, Vito Alessandro, Cimmino, Flora, Ognibene, Marzia, Mazzocco, Katia, Erminio, Giovanni, Morini, Martina, Conte, Massimo, Iolascon, Achille, Pezzolo, Annalisa, Capasso, Mario

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.18 MB

2020

22

Challenges in returning results in a genomic medicine implementation study: the Return of Actionable Variants Empirical (RAVE) study

Kochan, David C., Winkler, Erin, Lindor, Noralane, Shaibi, Gabriel Q., Olson, Janet, Caraballo, Pedro J., Freimuth, Robert, Pacyna, Joel E., Breitkopf, Carmen Radecki, Sharp, Richard R., Kullo, Iftikh

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.03 MB

2020

23

metPropagate: network-guided propagation of metabolomic information for prioritization of metabolic disease genes

Graham Linck, Emma J., Richmond, Phillip A., Tarailo-Graovac, Maja, Engelke, Udo, Kluijtmans, Leo A. J., Coene, Karlien L. M., Wevers, Ron A., Wasserman, Wyeth, van Karnebeek, Clara D. M., Mostafavi,

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.77 MB

2020

24

Personalised mapping of tumour development in synchronous colorectal cancer patients

Thomas, Valentina, Cotter, Maura B., Tosetto, Miriam, Khaw, Yi Ling, Geraghty, Robert, Winter, Desmond C., Ryan, Elizabeth J., Sheahan, Kieran, Furney, Simon J.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.20 MB

2020

25

Childrenâs rare disease cohorts: an integrative research and clinical genomics initiative

Rockowitz, Shira, LeCompte, Nicholas, Carmack, Mary, Quitadamo, Andrew, Wang, Lily, Park, Meredith, Knight, Devon, Sexton, Emma, Smith, Lacey, Sheidley, Beth, Field, Michael, Holm, Ingrid A., Brownste

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.89 MB

2020

26

Sequencing technology status of BRCA1/2 testing in Latin American Countries

Solano, Angela R., Palmero, Edenir I., Delgado, LucÃa, Carraro, Dirce M., OrtÃz-LÃ³pez, RocÃo, Carranza, Claudia L., Santamaria, Carlos, Cifuentes, Laura, Jara Sosa, Lilian E., Toland, Amanda E.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 745 KB

2020

27

Exon-focused targeted oligonucleotide microarray design increases detection of clinically relevant variants across multiple NHS genomic centres

Jezkova, Jana, Heath, Jade, Williams, Angharad, Barrell, Deborah, Norton, Jessica, Collinson, Morag N., Beal, Sarah J., Corrin, Sian, Morgan, Sian

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 807 KB

2020

28

A systematic comparison of pharmacogene star allele calling bioinformatics algorithms: a focus on CYP2D6 genotyping

Twesigomwe, David, Wright, Galen E. B., DrÃ¶gemÃ¶ller, Britt I., da Rocha, Jorge, Lombard, ZanÃ©, Hazelhurst, Scott

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.25 MB

2020

29

Identification of a likely pathogenic structural variation in the LAMA1 gene by Bionano optical mapping

Chen, Min, Zhang, Min, Qian, Yeqing, Yang, Yanmei, Sun, Yixi, Liu, Bei, Wang, Liya, Dong, Minyue

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.28 MB

2020

30

Identity by descent analysis identifies founder events and links SOD1 familial and sporadic ALS cases

Henden, Lyndal, Twine, Natalie A., Szul, Piotr, McCann, Emily P., Nicholson, Garth A., Rowe, Dominic B., Kiernan, Matthew C., Bauer, Denis C., Blair, Ian P., Williams, Kelly L.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 878 KB

2020

31

Pharmacogenomics of COVID-19 therapies

Takahashi, Takuto, Luzum, Jasmine A., Nicol, Melanie R., Jacobson, Pamala A.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 630 KB

2020

32

Partially automated whole-genome sequencing reanalysis of previously undiagnosed pediatric patients can efficiently yield new diagnoses

James, Kiely N., Clark, Michelle M., Camp, Brandon, Kint, Cyrielle, Schols, Peter, Batalov, Sergey, Briggs, Benjamin, Veeraraghavan, Narayanan, Chowdhury, Shimul, Kingsmore, Stephen F.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 871 KB

2020

33

A three-year follow-up study evaluating clinical utility of exome sequencing and diagnostic potential of reanalysis

Fung, Jasmine L. F., Yu, Mullin H. C., Huang, Shushu, Chung, Claudia C. Y., Chan, Marcus C. Y., Pajusalu, Sander, Mak, Christopher C. Y., Hui, Vivian C. C., Tsang, Mandy H. Y., Yeung, Kit San, Lek, Mo

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 913 KB

2020

34

Associations of the intestinal microbiome with the complement system in neovascular age-related macular degeneration

Zysset-Burri, Denise C., Keller, Irene, Berger, Lieselotte E., LargiadÃ¨r, Carlo R., Wittwer, Matthias, Wolf, Sebastian, Zinkernagel, Martin S.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.13 MB

2020

35

Next-generation sequencing of newborn screening genes: the accuracy of short-read mapping

Trier, C., Fournous, G., Strand, J. M., Stray-Pedersen, A., Pettersen, R. D., Rowe, A. D.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 3.65 MB

2020

36

Association of CNVs with methylation variation

Shi, Xinghua, Radhakrishnan, Saranya, Wen, Jia, Chen, Jin Yun, Chen, Junjie, Lam, Brianna Ashlyn, Mills, Ryan E., Stranger, Barbara E., Lee, Charles, Setlur, Sunita R.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.31 MB

2020

37

Improved detection of tumor suppressor events in single-cell RNA-Seq data

Teschendorff, Andrew E., Wang, Ning

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 6.09 MB

2020

38

Diagnostic utility of whole-genome sequencing for nephronophthisis

Larrue, Romain, Chamley, Paul, Bardyn, Thomas, Lionet, Arnaud, Gnemmi, Viviane, Cauffiez, Christelle, Glowacki, FranÃ§ois, Pottier, Nicolas, Broly, Franck

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 966 KB

2020

39

Genomic testing in 1019 individuals from 349 Pakistani families results in high diagnostic yield and clinical utility

Cheema, Huma, Bertoli-Avella, Aida M., Skrahina, Volha, Anjum, Muhammad Nadeem, Waheed, Nadia, Saeed, Anjum, Beetz, Christian, Perez-Lopez, Jordi, Rocha, Maria Eugenia, Alawbathani, Salem, Pereira, Ca

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 2.53 MB

2020

40

Early-onset renal cell carcinoma in PTEN harmatoma tumour syndrome

Kim, Raymond H., Wang, Xiangling, Evans, Andrew J., Campbell, Steven C., Nguyen, Jane K., Farncombe, Kirsten M., Eng, Charis

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.03 MB

2020

41

Best practices for the analytical validation of clinical whole-genome sequencing intended for the diagnosis of germline disease

Marshall, Christian R., Chowdhury, Shimul, Taft, Ryan J., Lebo, Mathew S., Buchan, Jillian G., Harrison, Steven M., Rowsey, Ross, Klee, Eric W., Liu, Pengfei, Worthey, Elizabeth A., Jobanputra, Vaideh

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 989 KB

2020

42

Multiple neoplasia in a patient with Gitelman syndrome harboring germline monoallelic MUTYH mutation

Chan, Jason Yongsheng, Toh, Ming Ren, Chong, Siao Ting, Ishak, Nur Diana Binte, Kolinjivadi, Arun Mouli, Chan, Sock Hoai, Lee, Elizabeth, Boot, Arnoud, Shao-Tzu, Li, Chew, Min-Hoe, Ngeow, Joanne

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.46 MB

2020

43

The Brazilian Initiative on Precision Medicine (BIPMed): fostering genomic data-sharing of underrepresented populations

Rocha, Cristiane S., Secolin, Rodrigo, Rodrigues, MaÃra R., Carvalho, Benilton S., Lopes-Cendes, Iscia

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.16 MB

2020

44

The influence of common polygenic risk and gene sets on social skills group training response in autism spectrum disorder

Li, Danyang, Choque-Olsson, Nora, Jiao, Hong, Norgren, Nina, Jonsson, Ulf, BÃ¶lte, Sven, Tammimies, Kristiina

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 770 KB

2020

45

The Egyptian Collaborative Cardiac Genomics (ECCO-GEN) Project: defining a healthy volunteer cohort

Aguib, Yasmine, Allouba, Mona, Afify, Alaa, Halawa, Sarah, El-Khatib, Mohamed, Sous, Marina, Galal, Aya, Abdelrahman, Eslam, Shehata, Nairouz, El Sawy, Amr, Elmaghawry, Mohamed, Anwer, Shehab, Kamel,

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1.43 MB

2020

46

Prevalence and types of inconsistencies in clinical pharmacogenetic recommendations among major U.S. sources

Shugg, Tyler, Pasternak, Amy L., London, Bianca, Luzum, Jasmine A.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 634 KB

2020

47

Measurement of genetic diseases as a cause of mortality in infants receiving whole genome sequencing

Kingsmore, Stephen F., Henderson, Audrey, Owen, Mallory J., Clark, Michelle M., Hansen, Christian, Dimmock, David, Chambers, Christina D., Jeliffe-Pawlowski, Laura L., Hobbs, Charlotte

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 702 KB

2020

48

Functional characterisation guides classification of novel BAP1 germline variants

Hong, Jing Han, Chong, Siao Ting, Lee, Po-Hsien, Tan, Jing, Heng, Hong Lee, Ishak, Nur Diana Binte, Chan, Sock Hoai, Teh, Bin Tean, Ngeow, Joanne

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 3.12 MB

2020

49

Intron retention is a robust marker of intertumoral heterogeneity in pancreatic ductal adenocarcinoma

Tan, Daniel J., Mitra, Mithun, Chiu, Alec M., Coller, Hilary A.

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 3.80 MB

2020

50

Somatic and germline analysis of a familial RothmundâThomson syndrome in two siblings with osteosarcoma

GutiÃ©rrez-Jimeno, Miriam, Panizo-Morgado, Elena, Tamayo, Ibon, San JuliÃ¡n, Mikel, CatalÃ¡n-LambÃ¡n, Ana, Alonso, Marta M., PatiÃ±o-GarcÃa, Ana

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 1016 KB

2020

51

A flexible computational pipeline for research analyses of unsolved clinical exome cases

Lassmann, Timo, Francis, Richard W., Weeks, Alexia, Tang, Dave, Jamieson, Sarra E., Broley, Stephanie, Dawkins, Hugh J. S., Dreyer, Lauren, Goldblatt, Jack, Groza, Tudor, Kamien, Benjamin, Kiraly-Borr

Journal:

npj Genomic Medicine

Year:

2020

File:

PDF, 996 KB

2020

To build up a library is to create a life. It’s never just a random collection of books.

— Carlos María Domínguez

Official channel

Z-Library Desktop Launcher

Tor version

Z-Library

Z-Library Since 2009 support@z-lib.do

EnglishРусскийEspañolItalianoελληνικάاللغة العربيةBahasa IndonesiaBahasa Malaysiaहिन्दीDeutschFrançaisPortuguêsУкраїнськаPolski中文繁體中文日本語Tiếng ViệtAzərbaycan DiliՀայոց լեզուภาษาไทยTürk Diliქართველიবাংলাپښتوతెలుగుاردو한국어SrpskiБългарски