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Joakim Crona, Alberto Delgado Verdugo, Dan Granberg, Staffan Welin, Peter Stålberg, Per Hellman and Peyman Björklund

first-degree relative or two second-degree relatives; PCC, pheochromocytomas. Exome capture and high-throughput sequencing All samples were macro-dissected to achieve neoplastic cellularity of >80%. DNA was prepared from cryosections using Genomic-tip 20

Open access

Peng Fan, Chao-Xia Lu, Di Zhang, Kun-Qi Yang, Pei-Pei Lu, Ying Zhang, Xu Meng, Su-Fang Hao, Fang Luo, Ya-Xin Liu, Hui-Min Zhang, Lei Song, Jun Cai, Xue Zhang and Xian-Liang Zhou

. Bioinformatics 2009 25 1754 – 1760 . ( ) 9 Wang K Li M Hakonarson H. ANNOVAR: functional annotation of genetic variants from high-throughput sequencing data . Nucleic Acids Research 2010 38 e164

Open access

Lijuan Yuan, Xihui Chen, Ziyu Liu, Dan Wu, Jianguo Lu, Guoqiang Bao, Sijia Zhang, Lifeng Wang and Yuanming Wu

quantitative PCR to estimate the percentage of enrichment. Each captured library was then loaded onto Hiseq2000 platform. We performed high-throughput sequencing for each captured library to ensure that every sample met the desired average sequencing depth. Raw

Open access

Emmi Naskali, Katja Dettmer, Peter J Oefner, Pedro A B Pereira, Kai Krohn, Petri Auvinen, Annamari Ranki and Nicolas Kluger

: GTGACTGGAGTTCAGACGTGTGCTCTTCCGATCTctgagtg. The small letters correspond to additional nucleotides that are added for mixing purposes during sequencing. The amplicon sequencing was performed with an Illumina MiSeq (v3 600 cycle kit), with 325 bases for the forward and 285 bases for

Open access

Dario de Biase, Federica Torricelli, Moira Ragazzi, Benedetta Donati, Elisabetta Kuhn, Michela Visani, Giorgia Acquaviva, Annalisa Pession, Giovanni Tallini, Simonetta Piana and Alessia Ciarrocchi

, which functions as transcriptional coactivator in eukaryotic cells by triggering transcriptional initiation through the interaction with both transcription factors and RNA polymerase II ( 37 ). Through the advent of high-throughput sequencing

Open access

Eric Seidel, Gudrun Walenda, Clemens Messerschmidt, Benedikt Obermayer, Mirko Peitzsch, Paal Wallace, Rohini Bahethi, Taekyeong Yoo, Murim Choi, Petra Schrade, Sebastian Bachmann, Gerhard Liebisch, Graeme Eisenhofer, Dieter Beule and Ute I Scholl

SeqCap EZ Med Exome (Roche) and high-throughput sequencing (HiSeq 4000, Illumina) were performed at the Yale Center for Genome Analysis. We used BWA-mem v0.7.15 ( 21 ) to map each whole-exome data set against genome reference GRCh37(hs37d5.fa). Separate

Open access

Kate E Lines, Mahsa Javid, Anita A C Reed, Gerard V Walls, Mark Stevenson, Michelle Simon, Kreepa G Kooblall, Sian E Piret, Paul T Christie, Paul J Newey, Ann-Marie Mallon and Rajesh V Thakker

K, S E P, P T C, P N and R V T) and a Wellcome Trust Clinical Research Training Fellowship grant 087332/Z/08/Z to M J. R V T is a Wellcome Trust Investigator. Acknowledgements The authors thank the High-Throughput Genomics Group at the