2014 Curt Stern Award: Adventures in Human Genetics

por Abecasis, Gonçalo R.
Publicado 2015

Exome sequencing and complex disease: practical aspects of rare variant association studies

por Do, Ron, Kathiresan, Sekar, Abecasis, Gonçalo R.
Publicado 2012

METAL: fast and efficient meta-analysis of genomewide association scans

por Willer, Cristen J., Li, Yun, Abecasis, Gonçalo R.
Publicado 2010

Optimal sequencing strategies for identifying disease-associated singletons

por Rashkin, Sara, Jun, Goo, Chen, Sai, Abecasis, Goncalo R.
Publicado 2017

An efficient and scalable analysis framework for variant extraction and refinement from population-scale DNA sequence data

por Jun, Goo, Wing, Mary Kate, Abecasis, Gonçalo R., Kang, Hyun Min
Publicado 2015

RAREMETAL: fast and powerful meta-analysis for rare variants

por Feng, Shuang, Liu, Dajiang, Zhan, Xiaowei, Wing, Mary Kate, Abecasis, Gonçalo R.
Publicado 2014

RVTESTS: an efficient and comprehensive tool for rare variant association analysis using sequence data

por Zhan, Xiaowei, Hu, Youna, Li, Bingshan, Abecasis, Goncalo R., Liu, Dajiang J.
Publicado 2016

Age-related macular degeneration-associated variants at chromosome 10q26 do not significantly alter ARMS2 and HTRA1 transcript levels in the human retina

por Kanda, Atsuhiro, Stambolian, Dwight, Chen, Wei, Curcio, Christine A., Abecasis, Gonçalo R., Swaroop, Anand
Publicado 2010

QPLOT: A Quality Assessment Tool for Next Generation Sequencing Data

por Li, Bingshan, Zhan, Xiaowei, Wing, Mary-Kate, Anderson, Paul, Kang, Hyun Min, Abecasis, Goncalo R.
Publicado 2013

Enhanced genetic maps from family-based disease studies: population-specific comparisons

por He, Chunsheng, Weeks, Daniel E, Buyske, Steven, Abecasis, Goncalo R, Stewart, William C, Matise, Tara C
Publicado 2011

LASER server: ancestry tracing with genotypes or sequence reads

por Taliun, Daniel, Chothani, Sonia P, Schönherr, Sebastian, Forer, Lukas, Boehnke, Michael, Abecasis, Gonçalo R, Wang, Chaolong
Publicado 2017

Relative impact of indels versus SNPs on complex disease

por Gagliano, Sarah A., Sengupta, Sebanti, Sidore, Carlo, Maschio, Andrea, Cucca, Francesco, Schlessinger, David, Abecasis, Gonçalo R.
Publicado 2018

LocusZoom.js: interactive and embeddable visualization of genetic association study results

por Boughton, Andrew P, Welch, Ryan P, Flickinger, Matthew, VandeHaar, Peter, Taliun, Daniel, Abecasis, Gonçalo R, Boehnke, Michael
Publicado 2021

A Likelihood-Based Framework for Variant Calling and De Novo Mutation Detection in Families

por Li, Bingshan, Chen, Wei, Zhan, Xiaowei, Busonero, Fabio, Sanna, Serena, Sidore, Carlo, Cucca, Francesco, Kang, Hyun M., Abecasis, Gonçalo R.
Publicado 2012

Genotype calling and haplotyping in parent-offspring trios

por Chen, Wei, Li, Bingshan, Zeng, Zhen, Sanna, Serena, Sidore, Carlo, Busonero, Fabio, Kang, Hyun Min, Li, Yun, Abecasis, Gonçalo R.
Publicado 2013

A cross-platform analysis of 14,177 expression quantitative trait loci derived from lymphoblastoid cell lines

por Liang, Liming, Morar, Nilesh, Dixon, Anna L., Lathrop, G. Mark, Abecasis, Goncalo R., Moffatt, Miriam F., Cookson, William O.C.
Publicado 2013

Comparing variant calling algorithms for target-exon sequencing in a large sample

por Lo, Yancy, Kang, Hyun M, Nelson, Matthew R, Othman, Mohammad I, Chissoe, Stephanie L, Ehm, Margaret G, Abecasis, Gonçalo R, Zöllner, Sebastian
Publicado 2015

LocusZoom: regional visualization of genome-wide association scan results

por Pruim, Randall J., Welch, Ryan P., Sanna, Serena, Teslovich, Tanya M., Chines, Peter S., Gliedt, Terry P., Boehnke, Michael, Abecasis, Gonçalo R., Willer, Cristen J.
Publicado 2010

Ancestry-agnostic estimation of DNA sample contamination from sequence reads

por Zhang, Fan, Flickinger, Matthew, Taliun, Sarah A. Gagliano, Abecasis, Gonçalo R., Scott, Laura J., McCaroll, Steven A., Pato, Carlos N., Boehnke, Michael, Kang, Hyun Min
Publicado 2020

The influence of genomic context on mutation patterns in the human genome inferred from rare variants

por Schaibley, Valerie M., Zawistowski, Matthew, Wegmann, Daniel, Ehm, Margaret G., Nelson, Matthew R., St. Jean, Pamela L., Abecasis, Gonçalo R., Novembre, John, Zöllner, Sebastian, Li, Jun Z.
Publicado 2013