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Publications

Detection of long repeat expansions from PCR-free whole-genome sequence data

Identifying large expansions of short tandem repeats (STRs) such as those that cause amyotrophic lateral sclerosis (ALS) and fragile X syndrome is challenging for short-read whole-genome sequencing (WGS) data. A solution to this problem is an important step towards integrating...

Authors:  Giuseppe Narzisi  

Pancreatic intraductal tubulopapillary neoplasm is genetically distinct from intraductal papillary mucinous neoplasm and ductal adenocarcinoma

Intraductal tubulopapillary neoplasm is a relatively recently described member of the pancreatic intraductal neoplasm family. The more common member of this family, intraductal papillary mucinous neoplasm, often carries genetic alterations typical of pancreatic infiltrating ductal adenocarcinoma (KRAS, TP53, and CDKN2A)...

Authors:  Kazimierz Wrzeszczynski  

Comparing sequencing assays and human-machine analyses in actionable genomics for glioblastoma

Objective: To analyze a glioblastoma tumor specimen with 3 different platforms and compare potentially actionable calls from each.

Methods: Tumor DNA was analyzed by a commercial targeted panel. In addition, tumor-normal DNA was...

Authors:  Michael Zody   Nicolas Robine   Kazimierz Wrzeszczynski   Kanika Arora   Minita Shah  

The methyltransferase SETDB1 regulates a large neuron-specific topological chromatin domain.

We report locus-specific disintegration of megabase-scale chromosomal conformations in brain after neuronal ablation of Setdb1 (also known as Kmt1e; encodes a histone H3 lysine 9 methyltransferase), including a large topologically associated 1.2-Mb domain conserved in humans and mice that encompasses...

Authors:  Will Liao  

Indel variant analysis of short-read sequencing data with Scalpel

As the second most common type of variation in the human genome, insertions and deletions (indels) have been linked to many diseases, but the discovery of indels of more than a few bases in size from short-read sequencing data remains...

Authors:  Michael Zody   Giuseppe Narzisi   Kanika Arora  

PGBD5 promotes site-specific oncogenic mutations in human tumors.

Nat Genet. 2017 May 15. doi: 10.1038/ng.3866. Genomic rearrangements are a hallmark of human cancers. Here, we identify the piggyBac transposable element derived 5 (PGBD5) gene as encoding an active DNA transposase expressed in the majority of childhood...

Authors:  Kanika Arora   Minita Shah  

Next-Generation Rapid Autopsies Enable Tumor Evolution Tracking and Generation of Preclinical Models

Purpose:

Patients with cancer who graciously consent for autopsy represent an invaluable resource for the study of cancer biology. To advance the study of tumor evolution, metastases, and resistance to treatment, we developed a next-generation rapid autopsy program integrated within a...

Authors:  Nicolas Robine  

Extreme genomic erosion after recurrent demographic bottlenecks in the highly endangered Iberian lynx

Genomic studies of endangered species provide insights into their evolution and demographic history, reveal patterns of genomic erosion that might limit their viability, and offer tools for their effective conservation. The Iberian lynx (Lynx pardinus) is the most endangered felid...

Authors:  Andre Corvelo  

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