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Genetics

D-Index
74
Citations
48764
World Ranking
1925
National Ranking
883

Research.com Recognitions

  • 2017 - Fellow of the Indian National Academy of Engineering (INAE)

Overview

Rachel Karchin is a researcher affiliated with Johns Hopkins University in the United States. Their work spans the fields of Biochemistry, Genetics and Molecular Biology, and Medicine, with a significant focus in Molecular Biology, Oncology, Cancer Research, Immunology, and Genetics.

Their research covers main topics such as Cancer Genomics and Diagnostics, Cancer Immunotherapy and Biomarkers, Immunotherapy and Immune Responses, Pancreatic and Hepatic Oncology Research, Genomics and Rare Diseases, Genetic Factors in Colorectal Cancer, and vaccines and immunoinformatics approaches.

Rachel Karchin has contributed to multiple publications, including recent papers like:

  • Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria (2022) published in The American Journal of Human Genetics
  • Using the ACMG/AMP framework to capture evidence related to predicted and observed impact on splicing: Recommendations from the ClinGen SVI Splicing Subgroup (2023) published in The American Journal of Human Genetics
  • Multimodal genomic features predict outcome of immune checkpoint blockade in non-small-cell lung cancer (2020) published in Nature Cancer
  • Genomic characterization of malignant progression in neoplastic pancreatic cysts (2020) published in Nature Communications
  • Persistent mutation burden drives sustained anti-tumor immune responses (2023) published in Nature Medicine

The venues where Rachel Karchin frequently publishes include:

  • Cancer Research
  • bioRxiv (Cold Spring Harbor Laboratory)
  • Cancer Genetics
  • The American Journal of Human Genetics
  • Nature Cancer

Collaboration is a notable part of their work, with frequent coauthors such as:

  • Valsamo Anagnostou
  • Noushin Niknafs
  • Archana Balan
  • Victor E. Velculescu
  • Xiaoshan M. Shao

Rachel Karchin's contributions to science have been recognized with awards including the Fellow of the Indian National Academy of Engineering (INAE) in 2017.

Best Publications

  • Integrated genomic analyses of ovarian carcinoma

    D. Bell;A. Berchuck;M. Birrer;J. Chien

  • An Integrated Genomic Analysis of Human Glioblastoma Multiforme

    D. Williams Parsons;Siân Jones;Xiaosong Zhang;Jimmy Cheng-Ho Lin

  • Core Signaling Pathways in Human Pancreatic Cancers Revealed by Global Genomic Analyses

    Siân Jones;Xiaosong Zhang;D. Williams Parsons;D. Williams Parsons;Jimmy Cheng Ho Lin

  • Genomic landscapes of human breast and colorectal cancers

    Laura D. Wood;Williams D. Parsons;Sian Jones;Jimmy Lin

  • Comprehensive Characterization of Cancer Driver Genes and Mutations.

    Matthew H Bailey;Collin Tokheim;Eduard Porta-Pardo;Sohini Sengupta

  • MODBASE, a database of annotated comparative protein structure models, and associated resources

    Ursula Pieper;Narayanan Eswar;Ben M. Webb;David Eramian;David Eramian

  • Accumulation of driver and passenger mutations during tumor progression

    Ivana Bozic;Tibor Antal;Tibor Antal;Hisashi Ohtsuki;Hannah Carter

  • Evolution of Neoantigen Landscape during Immune Checkpoint Blockade in Non–Small Cell Lung Cancer

    Valsamo Anagnostou;Kellie N. Smith;Patrick M. Forde;Noushin Niknafs

  • The Genetic Landscape of the Childhood Cancer Medulloblastoma

    D. Williams Parsons;D. Williams Parsons;Meng Li;Xiaosong Zhang;Siân Jones

  • Exome sequencing identifies frequent inactivating mutations in BAP1, ARID1A and PBRM1 in intrahepatic cholangiocarcinomas

    Yuchen Jiao;Timothy M Pawlik;Robert A Anders;Florin M Selaru

  • Whole-exome sequencing of neoplastic cysts of the pancreas reveals recurrent mutations in components of ubiquitin-dependent pathways

    Jian Wu;Yuchen Jiao;Marco Dal Molin;Anirban Maitra

  • High grade serous ovarian carcinomas originate in the fallopian tube

    S. Intidhar Labidi-Galy;S. Intidhar Labidi-Galy;Eniko Papp;Dorothy Hallberg;Noushin Niknafs;Noushin Niknafs

  • Defining the disease liability of variants in the cystic fibrosis transmembrane conductance regulator gene

    Patrick R Sosnay;Karen R Siklosi;Fredrick Van Goor;Kyle Kaniecki;Kyle Kaniecki

  • Erratum: Comprehensive Characterization of Cancer Driver Genes and Mutations (ARTICLE (2018) 173(2) (371–385), (S009286741830237X), (10.1016/j.cell.2018.02.060))

    Matthew H. Bailey;Collin Tokheim;Eduard Porta-Pardo;Sohini Sengupta

  • Cancer-Specific High-Throughput Annotation of Somatic Mutations: Computational Prediction of Driver Missense Mutations

    Hannah Carter;Sining Chen;Leyla Isik;Svitlana Tyekucheva

  • Identifying Mendelian disease genes with the Variant Effect Scoring Tool

    Hannah Carter;Christopher Douville;Peter D. Stenson;David Neil Cooper

  • The genomic landscape of response to EGFR blockade in colorectal cancer

    Andrea Bertotti;Eniko Papp;Siân Jones;Vilmos Adleff

  • A Combination of Molecular Markers and Clinical Features Improve the Classification of Pancreatic Cysts

    Simeon Springer;Yuxuan Wang;Marco Dal Molin;David L. Masica

  • Integrating diverse genomic data using gene sets

    Svitlana Tyekucheva;Luigi Marchionni;Rachel Karchin;Giovanni Parmigiani

  • Integrated genomic analyses of ovarian carcinoma

    D. Bell;A. Berchuck;M. Birrer;J. Chien

Frequent Co-Authors

Bert Vogelstein
Bert Vogelstein Johns Hopkins University
Ralph H. Hruban
Ralph H. Hruban Johns Hopkins University School of Medicine
Nickolas Papadopoulos
Nickolas Papadopoulos Johns Hopkins University School of Medicine
Hannah Carter
Hannah Carter University of California, San Diego
Victor E. Velculescu
Victor E. Velculescu Johns Hopkins University School of Medicine
Kenneth W. Kinzler
Kenneth W. Kinzler Johns Hopkins University
Michael Goggins
Michael Goggins Johns Hopkins University
Laura D. Wood
Laura D. Wood Johns Hopkins University School of Medicine
Luis A. Diaz
Luis A. Diaz Memorial Sloan Kettering Cancer Center
Christopher L. Wolfgang
Christopher L. Wolfgang New York University

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