Goncalo Abecasis

University of Michigan

H-index: 207

North America-United States

Description

Goncalo Abecasis, With an exceptional h-index of 207 and a recent h-index of 145 (since 2020), a distinguished researcher at University of Michigan, specializes in the field of Biostatistics, Human Genetics, Statistical Computing, Genetics, Complex Traits.

His recent articles reflect a diverse array of research interests and contributions to the field:

Genotyping, sequencing and analysis of 140,000 adults from Mexico City (vol 622, pg 784, 2023)

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration

Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

Treatment Of Ophthalmic Conditions With Son of Sevenless 2 (SOS2) Inhibitors

Association analysis of mitochondrial DNA heteroplasmic variants: methods and application

Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure

Treatment of inflammation with glucocorticoids and angiopoietin-like 7 (ANGPTL7) inhibitors

SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study

Professor Information

University	University of Michigan
Position	School of Public Health
Citations(all)	331974
Citations(since 2020)	157187
Cited By	243101
hIndex(all)	207
hIndex(since 2020)	145
i10Index(all)	503
i10Index(since 2020)	454
Email	Access Email
University Profile Page	University of Michigan

Research & Interests List

Biostatistics

Human Genetics

Statistical Computing

Genetics

Complex Traits

Top articles of Goncalo Abecasis

Genotyping, sequencing and analysis of 140,000 adults from Mexico City (vol 622, pg 784, 2023)

The Mexico City Prospective Study is a prospective cohort of more than 150,000 adults recruited two decades ago from the urban districts of Coyoacán and Iztapalapa in Mexico City. Here we generated genotype and exome-sequencing data for all individuals and whole-genome sequencing data for 9,950 selected individuals. We describe high levels of relatedness and substantial heterogeneity in ancestry composition across individuals. Most sequenced individuals had admixed Indigenous American, European and African ancestry, with extensive admixture from Indigenous populations in central, southern and southeastern Mexico. Indigenous Mexican segments of the genome had lower levels of coding variation but an excess of homozygous loss-of-function variants compared with segments of African and European origin. We estimated ancestry-specific allele frequencies at 142 million genomic variants, with …

Authors

Andrey Ziyatdinov,Jason Torres,Jesús Alegre-Díaz,Joshua Backman,Joelle Mbatchou,Michael Turner,Sheila M Gaynor,Tyler Joseph,Yuxin Zou,Daren Liu,Rachel Wade,Jeffrey Staples,Razvan Panea,Alex Popov,Xiaodong Bai,Suganthi Balasubramanian,Lukas Habegger,Rouel Lanche,Alex Lopez,Evan Maxwell,Marcus Jones,Humberto García-Ortiz,Raul Ramirez-Reyes,Rogelio Santacruz-Benítez,Abhishek Nag,Katherine R Smith,Amy Damask,Nan Lin,Charles Paulding,Mark Reppell,Sebastian Zöllner,Eric Jorgenson,William Salerno,Slavé Petrovski,John Overton,Jeffrey Reid,Timothy A Thornton,Gonçalo Abecasis,Jaime Berumen,Lorena Orozco-Orozco,Rory Collins,Clinical Informatics Averitt Amelia 1 Banerjee Nilanjana 1 Li Dadong 1 Malhotra Sameer 1 Mower Justin 1 Sarwar Mudasar 1 Sharma Deepika 1 Staples Jeffrey C. 1 Sundaram Jay 1 Yu Sean 1 Zhang Aaron 1,Research Program Management and Strategic Initiatives Jones Marcus B. 1 Chen Esteban 1 Hernandez Jaimee 1 LeBlanc Michelle G. 1 Mighty Jason 1 Nishtala Nirupama 1 Rana Nadia 1 Rico-Varela Jennifer 1,Principal investigators Mexico,Principal investigators Oxford Emberson Jonathan R. 2 3 Peto Richard 2,Data management,programming and statistics Rivas-Reyes Fernando 4 Ramírez-Reyes Raúl 4,Field transportation,Genetics and bioinformatics Vergara Alejandra 4 Barrera-Sánchez Elizabeth 4 Del Vecchyo-Tenorio Georgina 4 González-Ruiz Margarita 4 Baca-Peynado Paulina 4 Liu Tianshu 2 Wang Yunhe 2,Project management Fernandez Gustavo Olaiz 11 Holland Lisa 2 3 Cervantes Malaquias López 11

Journal

Nature

Published Date

2023/10/26

Whole genome sequencing of 4,787 individuals identifies gene-based rare variants in age-related macular degeneration

Genome-wide association studies have contributed extensively to the discovery of disease-associated common variants. However, the genetic contribution to complex traits is still largely difficult to interpret. We report a genome-wide association study of 2394 cases and 2393 controls for age-related macular degeneration (AMD) via whole-genome sequencing, with 46.9 million genetic variants. Our study reveals significant single-variant association signals at four loci and independent gene-based signals in CFH, C2, C3, and NRTN. Using data from the Exome Aggregation Consortium (ExAC) for a gene-based test, we demonstrate an enrichment of predicted rare loss-of-function variants in CFH, CFI, and an as-yet unreported gene in AMD, ORMDL2. Our method of using a large variant list without individual-level genotypes as an external reference provides a flexible and convenient approach to leverage the …

Authors

Alan Kwong,Matthew Zawistowski,Lars G Fritsche,Xiaowei Zhan,Jennifer Bragg-Gresham,Kari E Branham,Jayshree Advani,Mohammad Othman,Rinki Ratnapriya,Tanya M Teslovich,Dwight Stambolian,Emily Y Chew,Gonçalo R Abecasis,Anand Swaroop

Journal

Human Molecular Genetics

Published Date

2024/2/15

Author Correction: Genotyping, sequencing and analysis of 140,000 adults from Mexico City

In the version of the article initially published, the surname of Peter Dornbos appeared incorrectly (as Dombos) and has now been corrected in the HTML and PDF versions of the article.

Authors

Journal

Nature

Published Date

2024/2/8

Treatment Of Ophthalmic Conditions With Son of Sevenless 2 (SOS2) Inhibitors

The present disclosure provides methods of treating patients having an ophthalmic condition, methods of identifying subjects having an increased risk of developing an ophthalmic condition, methods of detecting human Son of Sevenless 2 (SOS2) variant nucleic acid molecules and variant polypeptides.

Published Date

2023/11/21

Association analysis of mitochondrial DNA heteroplasmic variants: methods and application

We rigorously assessed a comprehensive association testing framework for heteroplasmy, employing both simulated and real-world data. This framework employed a variant allele fraction (VAF) threshold and harnessed multiple gene-based tests for robust identification and association testing of heteroplasmy. Our simulation studies demonstrated that gene-based tests maintained an appropriate type I error rate at α= 0.001. Notably, when 5% or more heteroplasmic variants within a target region were linked to an outcome, burden-extension tests (including the adaptive burden test, variable threshold burden test, and z-score weighting burden test) outperformed the sequence kernel association test (SKAT) and the original burden test. Applying this framework, we conducted association analyses on whole-blood derived heteroplasmy in 17,507 individuals of African and European ancestries (31% of African Ancestry …

Authors

Xianbang Sun,Katia Bulekova,Jian Yang,Meng Lai,Achilleas N Pitsillides,Xue Liu,Yuankai Zhang,Xiuqing Guo,Qian Yong,Laura M Raffield,Jerome I Rotter,Stephen S Rich,Goncalo Abecasis,April P Carson,Ramachandran S Vasan,Joshua C Bis,Bruce M Psaty,Eric Boerwinkle,Annette L Fitzpatrick,Claudia L Satizabal,Dan E Arking,Jun Ding,Daniel Levy,Chunyu Liu,TOPMed mtDNA working group

Journal

medRxiv

Published Date

2024/1/13

Prioritization of Kidney Cell Types Highlights Myofibroblast Cells in Regulating Human Blood Pressure

IntroductionBlood pressure (BP) is a highly heritable trait with over 2000 underlying genomic loci identified to date. Although the kidney plays a key role, little is known about specific cell types involved in the genetic regulation of BP.MethodsHere, we applied stratified linkage disequilibrium score (LDSC) regression to connect BP genome-wide association studies (GWAS) results to specific cell types of the mature human kidney. We used the largest single-stage BP genome-wide analysis to date, including up to 1,028,980 adults of European ancestry, and single-cell transcriptomic data from 14 mature human kidneys, with mean age of 41 years.ResultsOur analyses prioritized myofibroblasts and endothelial cells, among the total of 33 annotated cell type, as specifically involved in BP regulation (P < 0.05/33, i.e., 0.001515). Enrichment of heritability for systolic BP (SBP) was observed in myofibroblast cells in mature …

Authors

Mahboube Ganji-Arjenaki,Zoha Kamali,Evangelos Evangelou,Helen R Warren,He Gao,Georgios Ntritsos,Niki Dimou,Tonu Esko,Reedik Mägi,Lili Milani,Peter Almgren,Thibaud Boutin,Stéphanie Debette,Jun Ding,Franco Giulianini,Elizabeth G Holliday,Anne U Jackson,Ruifang Li-Gao,Wei-Yu Lin,Massimo Mangino,Christopher Oldmeadow,Bram Peter Prins,Yong Qian,Muralidharan Sargurupremraj,Nabi Shah,Praveen Surendran,Sébastien Thériault,Niek Verweij,Sara M Willems,Jing-Hua Zhao,Philippe Amouyel,John Connell,Renée de Mutsert,Alex SF Doney,Martin Farrall,Cristina Menni,Andrew D Morris,Raymond Noordam,Guillaume Paré,Neil R Poulter,Denis C Shields,Alice Stanton,Simon Thom,Gonçalo Abecasis,Najaf Amin,Dan E Arking,Kristin L Ayers,Caterina M Barbieri,Chiara Batini,Joshua C Bis,Tineka Blake,Murielle Bochud,Michael Boehnke,Eric Boerwinkle,Dorret I Boomsma,Erwin P Bottinger,Peter S Braund,Marco Brumat,Archie Campbell,Harry Campbell,Aravinda Chakravarti,John C Chambers,Ganesh Chauhan,Marina Ciullo,Massimiliano Cocca,Francis Collins,Heather J Cordell,Gail Davies,Martin H de Borst,Eco J de Geus,Ian J Deary,Joris Deelen,M Fabiola Del Greco,Cumhur Yusuf Demirkale,Marcus Dörr,Georg B Ehret,Roberto Elosua,Stefan Enroth,A Mesut Erzurumluoglu,Teresa Ferreira,Mattias Frånberg,Oscar H Franco,Ilaria Gandin,Paolo Gasparini,Vilmantas Giedraitis,Christian Gieger,Giorgia Girotto,Anuj Goel,Alan J Gow,Vilmundur Gudnason,Xiuqing Guo,Ulf Gyllensten,Anders Hamsten,Tamara B Harris,Sarah E Harris,Catharina A Hartman,Aki S Havulinna,Andrew A Hicks,Edith Hofer,Albert Hofman,Jouke-Jan Hottenga,Jennifer E Huffman,Shih-Jen Hwang,Erik Ingelsson,Alan James,Rick Jansen,Marjo-Riitta Jarvelin,Roby Joehanes,Åsa Johansson,Andrew D Johnson,Peter K Joshi,Pekka Jousilahti,J Wouter Jukema,Antti Jula,Mika Kähönen,Sekar Kathiresan,Bernard D Keavney,Kay-Tee Khaw,Paul Knekt,Joanne Knight,Ivana Kolcic,Jaspal S Kooner,Seppo Koskinen,Kati Kristiansson,Zoltan Kutalik,Maris Laan,Marty Larson,Lenore J Launer,Benjamin Lehne,Terho Lehtimäki,David CM Liewald,Li Lin,Lars Lind,Cecilia M Lindgren,YongMei Liu,Ruth JF Loos,Lorna M Lopez,Yingchang Lu,Leo-Pekka Lyytikäinen,Anubha Mahajan,Chrysovalanto Mamasoula,Jaume Marrugat,Jonathan Marten,Yuri Milaneschi,Anna Morgan,Andrew P Morris,Alanna C Morrison,Peter J Munson,Mike A Nalls,Priyanka Nandakumar

Journal

Kidney International Reports

Published Date

2024/3/13

Treatment of inflammation with glucocorticoids and angiopoietin-like 7 (ANGPTL7) inhibitors

The present disclosure provides methods of treating subjects having inflammation with an Angiopoietin-Like 7 (ANGPTL7) inhibitor and a glucocorticoid, methods of decreasing glucocorticoid-induced ophthalmic conditions in subjects, and methods of identifying subjects having an increased risk of developing glucocorticoid-induced ophthalmic conditions.

Published Date

2024/1/9

SERPINH1 variants and thrombotic risk among middle-aged and older adults: a population-based cohort study

Dear Editor, Heat shock protein 47 (HSP47), encoded by the SERPINH1 gene, is an intracellular chaperone protein that is important for collagen biosynthesis [1]. HSP47 is present on the platelet surface and interacts with collagen, stabilizes platelet adhesion, and increases collagen-mediated signaling, thrombus formation, and hemostasis [1]. Short-term immobility is a risk factor for venous thromboembolism (VTE)[2]. Paradoxically, long-term immobilized hibernating brown bears and paralyzed patients with spinal cord injury are protected from VTE [2]. Recently, HSP47 down-regulation has been linked to attenuated immune cell activation and neutrophil extracellular trap formation and thromboprotection in long-term immobilized (hibernating) bears, patients with spinal cord injury, and mice [2]. We hypothesized that genetic variation in the SERPINH1 gene might contribute to VTE in humans. In this study, we …

Authors

Eric Manderstedt,Christina Lind-Halldén,Christer Halldén,Johan Elf,Peter J Svensson,Gunnar Engström,Olle Melander,Aris Baras,Luca A Lotta,Bengt Zöller,Goncalo Abecasis,Adolfo Ferrando,Michael Cantor,Giovanni Coppola,Andrew Deubler,Aris Economides,John D Overton,Jeffrey G Reid,Alan Shuldiner,Katherine Siminovitch

Journal

Journal of Thrombosis and Haemostasis

Published Date

2024/3/1

Professor FAQs

What is Goncalo Abecasis's h-index at University of Michigan?

The h-index of Goncalo Abecasis has been 145 since 2020 and 207 in total.

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