Weinhold Lab

at Memorial Sloan Kettering Cancer Center.


Nils Weinhold

Nils Weinhold

Principal Investigator



Nadeem Riaz

Physician Scientist


Pedro Blecua

Research Associate



Vipin Sreedharan

Postdoctoral Fellow

Postdoc Position

Postdoctoral positions

see job posting on ISCB website


We are located in Zuckerman Research Center at
Memorial Sloan Kettering Cancer Center


Noncoding variation

Noncoding variation in the human genome

Most commonly cancer develops due to somatic alterations in the genome. Advances in sequencing have enabled large-scale sequencing studies across many tumor types, emphasizing the discovery of alterations in protein-coding genes. However, the protein-coding exome comprises less than 2% of the human genome. We are interested in understanding how variation in the remaining 98% impacts cancer.

Mutational Signature

Integrative analysis of large-scale genomics data

We have been actively involved in a number of cancer genomics projects from The Cancer Genome Atlas (TCGA). In particular we characterized the role of POLE mutation in endometrial cancer and also contributed pathway analysis for TCGA projects focussed on gastric and esophageal cancer.

Mutational signatures

Mutational signatures

Our work on Polymerase epsilon (POLE) mutations identified a subtype of tumors characterized by specific nucleotide changes throughout the human genome. We demonstrated that these specific substitutions are strand-specific and reversed at origins of replication. This work for the first time linked POLE to perform leading strand DNA replication.

Tumor heterogeneity and clonal evolution

Tumor heterogeneity and clonal evolution

Our lab investigates how cancer develops over time on a molecular level. We are able to reconstruct the history of a tumor by interrogating its mutations and copy number changes. We have led an extensive effort to understand how immunotherapy can alter the evolutionary path of a tumor, and how the clonal composition of a tumor changes in response to treatment.


Selected Publications

see Google Scholar profile for complete list of papers

Riaz N, Havel JJ, Kendall SM, Makarov V, Walsh LA, Desrichard A, Weinhold N, Chan TA
Recurrent SERPINB3 and SERPINB4 mutations in patients who respond to anti-CTLA4 immunotherapy. Nat Genet. 2016 Sep 26
Erson-Omay EZ, Çağlayan AO, Schultz N, Weinhold N, Omay SB, Özduman K, Köksal Y, Li J, Serin Harmancı A, Clark V, Carrión-Grant G, Baranoski J, Çağlar C, Barak T, Coşkun S, Baran B, Köse D, Sun J, Bakırcıoğlu M, Moliterno Günel J, Pamir MN, Mishra-Gorur K, Bilguvar K, Yasuno K, Vortmeyer A, Huttner AJ, Sander C, Günel M
Somatic POLE mutations cause an ultramutated giant cell high-grade glioma subtype with better prognosis, Neuro-Oncology 2015
Shinbrot E*, Henninger EE*, Weinhold N*, Covington KR, Göksenin AY, Schultz N, Chao H, Doddapaneni H, Muzny DM, Gibbs RA, Sander C, Pursell ZF, Wheeler DA
Exonuclease mutations in DNA polymerase epsilon reveal replication strand specific mutation patterns and human origins of replication, Genome Research 2014
Cancer Genome Atlas Research Network
Comprehensive molecular characterization of gastric adenocarcinoma, Nature 2014
Weinhold N*, Jacobsen A*, Schultz N, Sander C, Lee W
Genome-wide analysis of noncoding regulatory mutations in cancer, Nature Genetics 2014
Cancer Genome Atlas Research Network
Integrated genomic characterization of endometrial carcinoma, Nature 2013
Dalgaard MD*, Weinhold N*, Edsgärd D*, Silver JD, Pers TH, Nielsen JE, Jørgensen N, Juul A, Gerds TA, Giwercman A, Giwercman YL, Cohn-Cedermark G, Virtanen HE, Toppari J, Daugaard G, Jensen TS, Brunak S, Rajpert-De Meyts E, Skakkebæk NE, Leffers H, Gupta R.
A genome-wide association study of men with symptoms of testicular dysgenesis syndrome and its network biology interpretation, Journal of medical genetics 2012



Nils Weinhold
Memorial Sloan Kettering Cancer Center
Zuckerman Research Center
417 East 68th Street
New York, NY 10065