Skip to content

Home Search Authors Pakistan News Saved

SciRah

SciRah does not host or store research papers. Results come live from free, official scholarly APIs, and every paper links back to its original source.

Data sources

OpenAlex
Semantic Scholar
Crossref
CORE
arXiv
PubMed

Privacy policy Terms of service

L. Habegger · SciRah

Researcher profile · Semantic Scholar

L. Habegger

Share profile

L. Habegger — researcher profile on SciRah

h-index: 38
Works: 97
Citations: 31K

Most-cited papers

A global reference for human genetic variation
Taras K. Oleksyk, Adam Gonçalo R. David M. Richard M. Gonçalo R. David R. Auton Abecasis Altshuler Durbin Abecasis Bentley C, Adam Gonçalo R. Auton Abecasis, Adam Auton +496 more
2015Nature17K citations Open access
Semantic Scholar
Computationally efficient whole-genome regression for quantitative and binary traits
J. Mbatchou, Leland Barnard, J. Backman, A. Marcketta +13 more
2020Nature Genetics1,339 citations Open access
Semantic Scholar
The genomic complexity of primary human prostate cancer
M. Berger, Michael S. Lawrence, F. Demichelis, Y. Drier +37 more
2011Nature1,254 citations Open access
Semantic Scholar
A systematic survey of loss-of-function variants in human protein-coding genes
D. MacArthur, S. Balasubramanian, A. Frankish, N. Huang +47 more
2012Science1,247 citations Open access
Semantic Scholar
Personal Omics Profiling Reveals Dynamic Molecular and Medical Phenotypes
Rui Chen, George I. Mias, J. Li-Pook-Than, Lihua Jiang +37 more
2012Cell1,240 citations Open access
Semantic Scholar
Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project
M. Gerstein, Z. Lu, Eric L. Van Nostrand, Chao Cheng +127 more
2010Science1,040 citations Open access
Semantic Scholar
Exome sequencing and analysis of 454,787 UK Biobank participants
J. Backman, Alexander Li, A. Marcketta, Dylan Sun +37 more
2021Nature832 citations Open access
Semantic Scholar
Genetic and Pharmacologic Inactivation of ANGPTL3 and Cardiovascular Disease
F. Dewey, V. Gusarova, Richard L. Dunbar, C. O'Dushlaine +53 more
2017New England Journal of Medicine774 citations Open access
Semantic Scholar
Variation in Transcription Factor Binding Among Humans
Maya M Kasowski, F. Grubert, Christopher Heffelfinger, M. Hariharan +13 more
2010Science619 citations Open access
Semantic Scholar
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
F. Dewey, M. Murray, J. Overton, L. Habegger +50 more
2016Science508 citations
Semantic Scholar
Inactivating Variants in ANGPTL4 and Risk of Coronary Artery Disease
F. Dewey, V. Gusarova, C. O'Dushlaine, O. Gottesman +22 more
2016New England Journal of Medicine478 citations Open access
Semantic Scholar
Exome sequencing and characterization of 49,960 individuals in the UK Biobank
C. V. van Hout, I. Tachmazidou, J. Backman, Joshua D. Hoffman +47 more
2020Nature469 citations Open access
Semantic Scholar
Deciphering osteoarthritis genetics across 826,690 individuals from 9 populations
C. Boer, K. Hatzikotoulas, L. Southam, L. Stefánsdóttir +151 more
2021Cell433 citations Open access
Semantic Scholar
The GENCODE pseudogene resource
Bai-Kang Pei, Cristina Sisu, A. Frankish, C. Howald +10 more
2012Genome Biology351 citations Open access
Semantic Scholar
Performance comparison of whole-genome sequencing platforms
Hugo Y. K. Lam, M. Clark, Rui Chen, Rong Chen +9 more
2011Nature Biotechnology324 citations Open access
Semantic Scholar
Discovery of non-ETS gene fusions in human prostate cancer using next-generation RNA sequencing.
Dorothee Pflueger, S. Terry, A. Sboner, L. Habegger +15 more
2011Genome Research219 citations Open access
Semantic Scholar
Dynamic transcriptomes during neural differentiation of human embryonic stem cells revealed by short, long, and paired-end sequencing
Jia-Qian Wu, L. Habegger, Parinya Noisa, A. Szekely +9 more
2010Proceedings of the National Academy of Sciences of the United States of America206 citations Open access
Semantic Scholar
FusionSeq: a modular framework for finding gene fusions by analyzing paired-end RNA-sequencing data
A. Sboner, L. Habegger, Dorothee Pflueger, S. Terry +9 more
2010Genome Biology163 citations Open access
Semantic Scholar
Genome-wide analysis provides genetic evidence that ACE2 influences COVID-19 risk and yields risk scores associated with severe disease
J. Horowitz, J. Kosmicki, A. Damask, D. Sharma +55 more
2022Nature Genetics148 citations Open access
Semantic Scholar
Analysis of rare genetic variation underlying cardiometabolic diseases and traits among 200,000 individuals in the UK Biobank
S. Jurgens, Seung-Ho-An Choi, Valerie N. Morrill, M. Chaffin +66 more
2022Nature Genetics146 citations Open access
Semantic Scholar
Advancing human genetics research and drug discovery through exome sequencing of the UK Biobank
J. Szustakowski, S. Balasubramanian, E. Kvikstad, S. Khalid +107 more
2021Nature Genetics143 citations Open access
Semantic Scholar
Genetic inactivation of ANGPTL4 improves glucose homeostasis and is associated with reduced risk of diabetes
V. Gusarova, C. O'Dushlaine, T. Teslovich, P. Benotti +77 more
2018Nature Communications136 citations Open access
Semantic Scholar
Genome-wide association analyses highlight etiological differences underlying newly defined subtypes of diabetes
Dina Mansour Aly, O. Dwivedi, R. Prasad, A. Käräjämäki +48 more
2021Nature Genetics134 citations
Semantic Scholar
Comparison and calibration of transcriptome data from RNA-Seq and tiling arrays
A. Agarwal, David Koppstein, J. Rozowsky, A. Sboner +6 more
2010BMC Genomics124 citations Open access
Semantic Scholar
Whole exome sequencing and characterization of coding variation in 49,960 individuals in the UK Biobank
C. V. van Hout, I. Tachmazidou, J. Backman, Joshua Hoffman +45 more
2019bioRxiv122 citations Open access
Semantic Scholar
RSEQtools: a modular framework to analyze RNA-Seq data using compact, anonymized data summaries
L. Habegger, A. Sboner, T. Gianoulis, J. Rozowsky +3 more
2010Bioinform.112 citations Open access
Semantic Scholar
A deep catalogue of protein-coding variation in 983,578 individuals
Kathie Y. Sun, Xiao-Dong Bai, Si-Ying Chen, Su-Ying Bao +44 more
2024Nature94 citations Open access
Semantic Scholar
CLAMMS: a scalable algorithm for calling common and rare copy number variants from exome sequencing data
Jonathan S. Packer, E. Maxwell, C. O'Dushlaine, A. Lopez +6 more
2015Bioinform.94 citations Open access
Semantic Scholar
Genotyping, sequencing and analysis of 140,000 adults from Mexico City
A. Ziyatdinov, J. Torres, J. Alegre-Díaz, J. Backman +45 more
2023Nature91 citations Open access
Semantic Scholar
Pan-ancestry exome-wide association analyses of COVID-19 outcomes in 586,157 individuals
J. Kosmicki, J. Horowitz, N. Banerjee, R. Lanche +77 more
2021American Journal of Human Genetics85 citations Open access
Semantic Scholar
Accurate Identification and Analysis of Human mRNA Isoforms Using Deep Long Read Sequencing
H. Tilgner, D. Raha, L. Habegger, Mohammed Mohiuddin +2 more
2013G3: Genes, Genomes, Genetics71 citations Open access
Semantic Scholar
VAT: a computational framework to functionally annotate variants in personal genomes within a cloud-computing environment
L. Habegger, S. Balasubramanian, David Z. Chen, E. Khurana +6 more
2012Bioinform.71 citations Open access
Semantic Scholar
Profiling and leveraging relatedness in a precision medicine cohort of 92,455 exomes
Jeffrey Staples, E. Maxwell, Nehal Gosalia, C. Gonzaga-Jauregui +23 more
2017bioRxiv66 citations Open access
Semantic Scholar
Identification of Neuropsychiatric Copy Number Variants in a Health Care System Population
C. Martin, K. Wain, M. Oetjens, K. Tolwinski +8 more
2020JAMA psychiatry64 citations Open access
Semantic Scholar
Analysis of variable retroduplications in human populations suggests coupling of retrotransposition to cell division
A. Abyzov, Rebecca C. Iskow, O. Gokcumen, David W. Radke +5 more
2013Genome Research49 citations Open access
Semantic Scholar
High heritability of ascending aortic diameter and trans-ancestry prediction of thoracic aortic disease
C. Tcheandjieu, K. Xiao, H. Tejeda, J. Lynch +99 more
2022Nature Genetics47 citations Open access
Semantic Scholar
Gene-level analysis of rare variants in 379,066 whole exome sequences identifies an association of GIGYF1 loss of function with type 2 diabetes
A. Deaton, M. Parker, L. D. Ward, A. Flynn-Carroll +89 more
2021Scientific Reports43 citations Open access
Semantic Scholar
Polygenic risk of psychiatric disorders exhibits cross-trait associations in electronic health record data from European ancestry individuals
R. Kember, A. Merikangas, S. Verma, A. Verma +43 more
2020Biological Psychiatry41 citations Open access
Semantic Scholar
Regulatory element copy number differences shape primate expression profiles
Rebecca C. Iskow, O. Gokcumen, A. Abyzov, Joanna Malukiewicz +12 more
2012Proceedings of the National Academy of Sciences of the United States of America38 citations Open access
Semantic Scholar
Gene inactivation and its implications for annotation in the era of personal genomics.
S. Balasubramanian, L. Habegger, A. Frankish, D. MacArthur +4 more
2011Genes & Development34 citations Open access
Semantic Scholar
Genome-wide analysis in 756,646 individuals provides first genetic evidence that ACE2 expression influences COVID-19 risk and yields genetic risk scores predictive of severe disease
J. Horowitz, J. Kosmicki, A. Damask, D. Sharma +55 more
2020medRxiv33 citations Open access
Semantic Scholar
Agonist antibody to guanylate cyclase receptor NPR1 regulates vascular tone
Michael E. Dunn, A. Kithcart, Jee Hae Kim, A. Ho +188 more
2024Nature31 citations Open access
Semantic Scholar
Sequencing in over 50,000 cases identifies coding and structural variation underlying atrial fibrillation risk
S. Choi, S. Jurgens, Ling Xiao, M. Hill +496 more
2025Nature Genetics29 citations Open access
Semantic Scholar
A catalog of associations between rare coding variants and COVID-19 outcomes
J. Kosmicki, J. E. Horowitz, N. Banerjee, R. Lanche +76 more
2020medRxiv29 citations Open access
Semantic Scholar
Integrative Analysis of the Caenorhabditis elegans Genome by the modENCODE Project
M. Gerstein, Z. Lu, Eric L. Van Nostrand, Chao Cheng +125 more
201029 citations
Semantic Scholar
Determining Structure and Function of Steroid Dehydrogenase Enzymes by Sequence Analysis, Homology Modeling, and Rational Mutational Analysis
W. Duax, James Thomas, V. Pletnev, A. Addlagatta +3 more
2005Annals of the New York Academy of Sciences22 citations
Semantic Scholar
The impact of common and rare genetic variants on bradyarrhythmia development
Lu-Chen Weng, Joel T. Rämö, S. Jurgens, S. Khurshid +103 more
2025Nature Genetics20 citations Open access
Semantic Scholar
Consortium, G.P A map of human genome variation from population-scale sequencing. Nature 467, 1061-1073
D. Altshuler, A. Cox, J. Herrero, D. Nickerson +356 more
201015 citations Open access
Semantic Scholar
Rational genomics I: Antisense open reading frames and codon bias in short‐chain oxido reductase enzymes and the evolution of the genetic code
W. Duax, Robert Huether, V. Pletnev, D. Langs +4 more
2005Proteins: Structure, Function, and Bioinformatics15 citations Open access
Semantic Scholar
Genetic risk factors for COVID-19 and influenza are largely distinct
J. Kosmicki, A. Marcketta, D. Sharma, Silvio Alessandro Di Gioia +54 more
2024Nature Genetics14 citations Open access
Semantic Scholar

Frequent co-authors

Invite them to SciRah by sharing their profile.

S. Balasubramanian×27
Invite
S. Balasubramanian — researcher profile on SciRah
A. Baras×27
Invite
A. Baras — researcher profile on SciRah
J. Overton×26
Invite
J. Overton — researcher profile on SciRah
E. Maxwell×20
Invite
E. Maxwell — researcher profile on SciRah

×19

Invite

M. Gerstein — researcher profile on SciRah

Xiao-Dong Bai×17

Invite

Xiao-Dong Bai — researcher profile on SciRah

Invite

W. Salerno — researcher profile on SciRah

Marcus Jones×16

Invite

Marcus Jones — researcher profile on SciRah

Jeffrey Staples×16

Invite

Jeffrey Staples — researcher profile on SciRah

Invite

A. Hawes — researcher profile on SciRah

Invite

A. Lopez — researcher profile on SciRah

G. Abecasis×14

Invite

G. Abecasis — researcher profile on SciRah