Search Results - "CHISSOE, Stephanie L"

The genetics of drug efficacy: opportunities and challenges by Nelson, Matthew R., Johnson, Toby, Warren, Liling, Hughes, Arlene R., Chissoe, Stephanie L., Xu, Chun-Fang, Waterworth, Dawn M.

“…Key Points To date, there have been at least 76 genome-wide association studies and a large number of candidate gene studies of drug efficacy. From these,…”
Get full text

An Abundance of Rare Functional Variants in 202 Drug Target Genes Sequenced in 14,002 People by Nelson, Matthew R., Wegmann, Daniel, Ehm, Margaret G., Kessner, Darren, St. Jean, Pamela, Verzilli, Claudio, Shen, Judong, Tang, Zhengzheng, Bacanu, Silviu-Alin, Fraser, Dana, Warren, Liling, Aponte, Jennifer, Zawistowski, Matthew, Liu, Xiao, Zhang, Hao, Zhang, Yong, Li, Jun, Li, Yun, Li Li, Woollard, Peter, Topp, Simon, Hall, Matthew D., Nangle, Keith, Wang, Jun, Abecasis, Gonçalo, Cardon, Lon R., Zöllner, Sebastian, Whittaker, John C., Chissoe, Stephanie L., Novembre, John, Mooser, Vincent

“…Rare genetic variants contribute to complex disease risk; however, the abundance of rare variants in human populations remains unknown. We explored this…”
Get full text

Performance of genotype imputation for rare variants identified in exons and flanking regions of genes by Li, Li, Li, Yun, Browning, Sharon R, Browning, Brian L, Slater, Andrew J, Kong, Xiangyang, Aponte, Jennifer L, Mooser, Vincent E, Chissoe, Stephanie L, Whittaker, John C, Nelson, Matthew R, Ehm, Margaret Gelder

“…Genotype imputation has the potential to assess human genetic variation at a lower cost than assaying the variants using laboratory techniques. The performance…”
Get full text

Characterization of ADME gene variation in 21 populations by exome sequencing by Hovelson, Daniel H, Xue, Zhengyu, Zawistowski, Matthew, Ehm, Margaret G, Harris, Elizabeth C, Stocker, Sophie L, Gross, Annette S, Jang, In-Jin, Ieiri, Ichiro, Lee, Jong-Eun, Cardon, Lon R, Chissoe, Stephanie L, Abecasis, Gonçalo, Nelson, Matthew R

“…OBJECTIVEProteins involving absorption, distribution, metabolism, and excretion (ADME) play a critical role in drug pharmacokinetics. The type and frequency of…”
Get full text

Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study by Cavalleri, Gianpiero L, PhD, Weale, Michael E, PhD, Shianna, Kevin V, PhD, Singh, Rinki, MD, Lynch, John M, MD, Grinton, Bronwyn, BSc, Szoeke, Cassandra, PhD, Murphy, Kevin, MD, Kinirons, Peter, MD, O'Rourke, Deirdre, MD, Ge, Dongliang, PhD, Depondt, Chantal, PhD, Claeys, Kristl G, PhD, Pandolfo, Massimo, MD, Gumbs, Curtis, BS, Walley, Nicole, BS, McNamara, James, MD, Mulley, John C, PhD, Linney, Kristen N, RN, Sheffield, Leslie J, FRACP, Radtke, Rodney A, MD, Tate, Sarah K, PhD, Chissoe, Stephanie L, PhD, Gibson, Rachel A, PhD, Hosford, David, MD, Stanton, Alice, PhD, Graves, Tracey D, MRCP, Hanna, Michael G, FRCP, Eriksson, Kai, MD, Kantanen, Anne-Mari, MD, Kalviainen, Reetta, MD, O'Brien, Terence J, MD, Sander, Josemir W, MD, FRCP, Duncan, John S, FCRP, Scheffer, Ingrid E, PhD, Berkovic, Samuel F, MD, Wood, Nicholas W, FRCP, Doherty, Colin P, MRCPI, Delanty, Norman, FRCPI, Sisodiya, Sanjay M, PhD, Goldstein, David B, PhD

“…Summary Background The Epilepsy Genetics (EPIGEN) Consortium was established to undertake genetic mapping analyses with augmented statistical power to detect…”
Get full text

Comparative Genomic Sequence Analysis of the Human and Mouse Cystic Fibrosis Transmembrane Conductance Regulator Genes by Ellsworth, Rachel E., Jamison, D. Curtis, Touchman, Jeffrey W., Chissoe, Stephanie L., Valerie V. Braden Maduro, Bouffard, Gerard G., Dietrich, Nicole L., Beckstrom-Sternberg, Stephen M., Iyer, Leslie M., Weintraub, Lauren A., Cotton, Marc, Courtney, Laura, Edwards, Jennifer, Maupin, Rachel, Ozersky, Philip, Rohlfing, Theresa, Wohldmann, Patricia, Miner, Tracie, Kemp, Kimberley, Kramer, Jason, Korf, Ian, Pepin, Kimberlie, Antonacci-Fulton, Lucinda, Fulton, Robert S., Minx, Patrick, Hillier, LaDeana W., Wilson, Richard K., Waterston, Robert H., Miller, Webb, Green, Eric D.

“…The identification of the cystic fibrosis transmembrane conductance regulator gene (CFTR) in 1989 represents a landmark accomplishment in human genetics. Since…”
Get full text

Comparing variant calling algorithms for target-exon sequencing in a large sample by Lo, Yancy, Kang, Hyun M, Nelson, Matthew R, Othman, Mohammad I, Chissoe, Stephanie L, Ehm, Margaret G, Abecasis, Gonçalo R, Zöllner, Sebastian

“…Sequencing studies of exonic regions aim to identify rare variants contributing to complex traits. With high coverage and large sample size, these studies tend…”
Get full text

Deep Resequencing Unveils Genetic Architecture of ADIPOQ and Identifies a Novel Low-Frequency Variant Strongly Associated With Adiponectin Variation by WARREN, Liling L, LI LI, HALL, Matt D, TOPP, Simon D, XIN YUAN, CARDON, Lon R, CHISSOE, Stephanie L, MOOSER, Vincent, MORRIS, Andrew D, PALMER, Colin N. A, PERRY, John R, FRAYLING, Timothy M, NELSON, Matthew R, WHITTAKER, John C, WATERWORTH, Dawn M, EHM, Margaret G, JUDONG SHEN, FRASER, Dana J, APONTE, Jennifer L, NANGLE, Keith L, SLATER, Andrew J, WOOLLARD, Peter M

“…Increased adiponectin levels have been shown to be associated with a lower risk of type 2 diabetes. To understand the relations between genetic variation at…”
Get full text

Deep sequencing of the LRRK2 gene in 14,002 individuals reveals evidence of purifying selection and independent origin of the p.Arg1628Pro mutation in Europe by Rubio, Justin P., Topp, Simon, Warren, Liling, St. Jean, Pamela L., Wegmann, Daniel, Kessner, Darren, Novembre, John, Shen, Judong, Fraser, Dana, Aponte, Jennifer, Nangle, Keith, Cardon, Lon R., Ehm, Margaret G., Chissoe, Stephanie L., Whittaker, John C., Nelson, Matthew R., Mooser, Vincent E.

“…Genetic variation in LRRK2 predisposes to Parkinson disease (PD), which underpins its development as a therapeutic target. Here, we aimed to identify novel…”
Get full text

Sequence and Analysis of the Human ABL Gene, the BCR Gene, and Regions Involved in the Philadelphia Chromosomal Translocation by Chissoe, Stephanie L., Bodenteich, Angelika, Wang, Yun-Fang, Wang, Ying-Ping, Burian, Dennis, Clifton, Sandra W., Crabtree, Judy, Freeman, Alexandra, Iyer, Kala, Jian, Li, Ma, Yichen, McLaury, Hei-Jen, Pan, Hua-Qin, Sarhan, Omayma H., Toth, Steve, Wang, Zhili, Zhang, Guozhong, Heisterkamp, Nora, Groffen, John, Roe, Bruce A.

“…The complete human BCR gene (152-141 nt) on chromosome 22 and greater than 80% of the human ABL gene (179-512 nt) on chromosome 9 have been sequenced from…”
Get full text

EMR1, an unusual member in the family of hormone receptors with seven transmembrane segments by Baud, Véronique, Chissoe, Stephanie L., Viegas-Péquignot, Evani, Diriong, Sylvie, Van Cong N'guyen, Roe, Bruce A., Lipinski, Marc

“…Proteins with seven transmembrane segments (7TM) define a superfamily of receptors (7TM receptors) sharing the same topology: an extracellular N-terminus,…”
Get full text

A transposon-based strategy for sequencing repetitive DNA in eukaryotic genomes by Devine, S E, Chissoe, S L, Eby, Y, Wilson, R K, Boeke, J D

“…Repetitive DNA is a significant component of eukaryotic genomes. We have developed a strategy to efficiently and accurately sequence repetitive DNA in the…”
Get full text

Representation of cloned genomic sequences in two sequencing vectors: correlation of DNA sequence and subclone distribution by Chissoe, Stephanie L., Marra, Marco A., Hillier, LaDeana, Brinkman, Ryan, Wilson, Richard K., Waterston, Robert H.

“…Representation of subcloned Caenorhabditis elegans and human DNA sequences in both M13 and pUC sequencing vectors was determined in the context of large scale…”
Get full text

The complete nucleotide sequences of the SacBII Kan domain of the P1 pAD10-SacBII cloning vector and three cosmid cloning vectors: pTCF, svPHEP, and LAWRIST16 by Pan, H Q, Wang, Y P, Chissoe, S L, Bodenteich, A, Wang, Z, Iyer, K, Clifton, S W, Crabtree, J S, Roe, B A

“…The complete nucleotide sequence of the 16,009-bp SacBII Kan domain of the P1 pAD10-SacBII cloning vector and the sequences of three cosmid cloning vectors,…”
Get more information