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Genetics

D-Index
77
Citations
57093
World Ranking
1729
National Ranking
793

Overview

Rasika A. Mathias is affiliated with Johns Hopkins University in the United States. Their research output spans across the fields of Biochemistry, Genetics and Molecular Biology, with significant contributions to Medicine. The scientist's work covers numerous subfields including Genetics, Molecular Biology, Physiology, Hematology, and Cancer Research.

The primary topics of Rasika A. Mathias's research involve Genetic Associations and Epidemiology, Asthma and respiratory diseases, Genomics and Rare Diseases, Cancer Genomics and Diagnostics, Epigenetics and DNA Methylation, Food Allergy and Anaphylaxis Research, and Bioinformatics and Genomic Networks.

The scientist has published extensively, with recurring contributions to the following venues:

  • bioRxiv (Cold Spring Harbor Laboratory)
  • UNC Libraries
  • Journal of Allergy and Clinical Immunology
  • Nature Communications
  • The American Journal of Human Genetics

Key papers authored or co-authored by Rasika A. Mathias include:

  • Dynamic incorporation of multiple in silico functional annotations empowers rare variant association analysis of large whole-genome sequencing studies at scale, 2020, Nature Genetics
  • De novo mutations across 1,465 diverse genomes reveal mutational insights and reductions in the Amish founder population, 2020, Proceedings of the National Academy of Sciences
  • A framework for detecting noncoding rare-variant associations of large-scale whole-genome sequencing studies, 2022, Nature Methods
  • Loss-of-function genomic variants highlight potential therapeutic targets for cardiovascular disease, 2020, Nature Communications
  • Aberrant activation of TCL1A promotes stem cell expansion in clonal haematopoiesis, 2023, Nature

Frequent co-authors collaborating with Rasika A. Mathias include:

  • Stephen S. Rich
  • Lisa R. Yanek
  • Bruce M. Psaty
  • Jerome I. Rotter
  • Eric Boerwinkle

Best Publications

  • A global reference for human genetic variation.

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • An integrated map of genetic variation from 1,092 human genomes

    Goncalo R Abecasis;Adam Auton;Lisa D Brooks

  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program.

    Daniel Taliun;Daniel N. Harris;Michael D. Kessler;Jedidiah Carlson;Jedidiah Carlson

  • Genome-partitioning of genetic variation for complex traits using common SNPs

    Jian Yang;Teri A. Manolio;Louis R. Pasquale;Eric Boerwinkle

  • Meta-analysis of genome-wide association studies of asthma in ethnically diverse North American populations

    Dara G. Torgerson;Dara G. Torgerson;Elizabeth J. Ampleford;Grace Y. Chiu;W. James Gauderman

  • A global reference for human genetic variation

    Adam Auton;Gonçalo R. Abecasis;David M. Altshuler;Richard M. Durbin

  • Inherited causes of clonal haematopoiesis in 97,691 whole genomes.

    Alexander G Bick;Joshua S Weinstock;Satish K Nandakumar;Satish K Nandakumar;Charles P Fulco;Charles P Fulco

  • Detectable clonal mosaicism from birth to old age and its relationship to cancer.

    Cathy C. Laurie;Cecelia A Laurie;Kenneth Rice;Kimberly F. Doheny

  • Sensitive detection of chromosomal segments of distinct ancestry in admixed populations.

    Alkes L. Price;Arti Tandon;Arti Tandon;Nick Patterson;Kathleen C Barnes

  • Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

    Florence Demenais;Florence Demenais;Patricia Margaritte-Jeannin;Patricia Margaritte-Jeannin;Kathleen C. Barnes;William O.C. Cookson

  • Sequencing of 53,831 diverse genomes from the NHLBI TOPMed Program

    Daniel Taliun;Daniel N. Harris;Michael D. Kessler;Jedidiah Carlson;Jedidiah Carlson

  • Variants of DENND1B Associated with Asthma in Children

    Patrick M. A. Sleiman;James Flory;Marcin Imielinski;Jonathan P. Bradfield

  • Assembly of a pan-genome from deep sequencing of 910 humans of African descent

    Rachel M. Sherman;Juliet Forman;Juliet Forman;Valentin Antonescu;Daniela Puiu

  • Genome-wide Association Analysis Identifies PDE4D as an Asthma-Susceptibility Gene

    Blanca E. Himes;Gary M. Hunninghake;James W. Baurley;Nicholas M. Rafaels

  • Use of >100,000 NHLBI Trans-Omics for Precision Medicine (TOPMed) Consortium whole genome sequences improves imputation quality and detection of rare variant associations in admixed African and Hispanic/Latino populations

    Madeline H Kowalski;Huijun Qian;Ziyi Hou;Jonathan D Rosen

  • Genome-wide association analyses for lung function and chronic obstructive pulmonary disease identify new loci and potential druggable targets

    Louise V. Wain;Louise V. Wain;Nick Shrine;María Soler Artigas;A. Mesut Erzurumluoglu

  • Thymic Stromal Lymphopoietin Gene Promoter Polymorphisms Are Associated with Susceptibility to Bronchial Asthma

    Michishige Harada;Tomomitsu Hirota;Aya I. Jodo;Yuki Hitomi

  • A Bivariate Genome-Wide Approach to Metabolic Syndrome: STAMPEED Consortium

    Aldi T. Kraja;Dhananjay Vaidya;James S. Pankow;Mark O. Goodarzi

  • Exome sequencing of extreme phenotypes identifies DCTN4 as a modifier of chronic Pseudomonas aeruginosa infection in cystic fibrosis

    Mary J Emond;Tin Louie;Julia Emerson;Julia Emerson;Wei Zhao

  • Multiancestry association study identifies new asthma risk loci that colocalize with immune-cell enhancer marks

    Florence Demenais;Patricia Margaritte-Jeannin;Kathleen C. Barnes;William O. C. Cookson

Frequent Co-Authors

Kathleen C. Barnes
Kathleen C. Barnes University of Colorado Denver
Lisa R. Yanek
Lisa R. Yanek Johns Hopkins University School of Medicine
Nicholas Rafaels
Nicholas Rafaels University of Colorado Denver
Ingo Ruczinski
Ingo Ruczinski Johns Hopkins University
Eric Boerwinkle
Eric Boerwinkle The University of Texas Health Science Center at Houston
Terri H. Beaty
Terri H. Beaty Johns Hopkins University
Diane M. Becker
Diane M. Becker Johns Hopkins University School of Medicine
Lewis C. Becker
Lewis C. Becker Johns Hopkins University School of Medicine
Bruce M. Psaty
Bruce M. Psaty University of Washington
Scott T. Weiss
Scott T. Weiss Harvard University

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