List of works - Rachel Karchin

A combination of molecular markers and clinical features improve the classification of pancreatic cysts

scientific article

A machine learning approach for somatic mutation discovery

scientific article published on 01 September 2018

A multimodality test to guide the management of patients with a pancreatic cyst

scientific article published on 01 July 2019

A novel approach for selecting combination clinical markers of pathology applied to a large retrospective cohort of surgically resected pancreatic cysts

scientific article published on 21 June 2016

Accumulation of driver and passenger mutations during tumor progression

scientific article

An integrated genomic analysis of human glioblastoma multiforme

scientific article

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

scientific article published on 17 October 2008

Assessing aneuploidy with repetitive element sequencing

scientific article published on 19 February 2020

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

scientific article published on 03 September 2019

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

scientific article published on 17 January 2018

Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

scientific article published on 04 August 2009

Characterization of genetic subclonal evolution in pancreatic cancer mouse models

scientific article published on 28 November 2019

Comprehensive Characterization of Cancer Driver Genes and Mutations

scientific article published in April 2018

Computational approaches to identify functional genetic variants in cancer genomes

scientific article published on August 2013

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

scientific article

Correction: Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

article

Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs).

scientific article published on 5 February 2018

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

scientific article

Evaluating the evaluation of cancer driver genes

scientific article

Evaluation of liquid from the Papanicolaou test and other liquid biopsies for the detection of endometrial and ovarian cancers.

scientific article published in March 2018

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

scientific article

Functional impact of missense variants in BRCA1 predicted by supervised learning

scientific article

Genomic characterization of malignant progression in neoplastic pancreatic cysts

scientific article published on 14 August 2020

IPMNs with co-occurring invasive cancers: neighbours but not always relatives.

scientific article published on 2 March 2018

Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations

scientific article published on 05 June 2019

Minimal functional driver gene heterogeneity among untreated metastases

scientific article published in Science

Multimodal genomic features predict outcome of immune checkpoint blockade in non-small-cell lung cancer

scientific article published on 13 January 2020

Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing

scientific article

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy.

scientific article published on 20 March 2018

Single-cell sequencing defines genetic heterogeneity in pancreatic cancer precursor lesions

scientific article published on 16 January 2019

The genetic landscape of the childhood cancer medulloblastoma

scientific article

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

scientific article published on 30 September 2015

The genomic landscapes of human breast and colorectal cancers

scientific article

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

scientific article published on 9 December 2015

Whole-Genome Sequencing of Salivary Gland Adenoid Cystic Carcinoma

scientific article

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

scientific article published on 8 December 2011

List of works by Rachel Karchin

A combination of molecular markers and clinical features improve the classification of pancreatic cysts

A machine learning approach for somatic mutation discovery

A multimodality test to guide the management of patients with a pancreatic cyst

A novel approach for selecting combination clinical markers of pathology applied to a large retrospective cohort of surgically resected pancreatic cysts

Accumulation of driver and passenger mutations during tumor progression

An integrated genomic analysis of human glioblastoma multiforme

Analysis of a set of missense, frameshift, and in-frame deletion variants of BRCA1

Assessing aneuploidy with repetitive element sequencing

Assessing computational predictions of the phenotypic effect of cystathionine-beta-synthase variants

Assessment of the Clinical Relevance of BRCA2 Missense Variants by Functional and Computational Approaches

Cancer-specific high-throughput annotation of somatic mutations: computational prediction of driver missense mutations

Characterization of genetic subclonal evolution in pancreatic cancer mouse models

Comprehensive Characterization of Cancer Driver Genes and Mutations

Computational approaches to identify functional genetic variants in cancer genomes

Core signaling pathways in human pancreatic cancers revealed by global genomic analyses

Correction: Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy

Detection of aneuploidy in patients with cancer through amplification of long interspersed nucleotide elements (LINEs).

Determination of cancer risk associated with germ line BRCA1 missense variants by functional analysis

Evaluating the evaluation of cancer driver genes

Evaluation of liquid from the Papanicolaou test and other liquid biopsies for the detection of endometrial and ovarian cancers.

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

Functional impact of missense variants in BRCA1 predicted by supervised learning

Genomic characterization of malignant progression in neoplastic pancreatic cysts

IPMNs with co-occurring invasive cancers: neighbours but not always relatives.

Intraductal Papillary Mucinous Neoplasms Arise From Multiple Independent Clones, Each With Distinct Mutations

Minimal functional driver gene heterogeneity among untreated metastases

Multimodal genomic features predict outcome of immune checkpoint blockade in non-small-cell lung cancer

Mutational signature of aristolochic acid exposure as revealed by whole-exome sequencing

Non-invasive detection of urothelial cancer through the analysis of driver gene mutations and aneuploidy.

Single-cell sequencing defines genetic heterogeneity in pancreatic cancer precursor lesions

The genetic landscape of the childhood cancer medulloblastoma

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

The genomic landscapes of human breast and colorectal cancers

Whole Genome Sequencing Defines the Genetic Heterogeneity of Familial Pancreatic Cancer

Whole-Genome Sequencing of Salivary Gland Adenoid Cystic Carcinoma

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