Systematic comparison of single-cell and single-nucleus RNA-sequencing methods
J Ding, X Adiconis, SK Simmons, MS Kowalczyk… - Nature …, 2020 - nature.com
The scale and capabilities of single-cell RNA-sequencing methods have expanded rapidly
in recent years, enabling major discoveries and large-scale cell mapping efforts. However …
in recent years, enabling major discoveries and large-scale cell mapping efforts. However …
Pathogenic germline variants in 10,389 adult cancers
We conducted the largest investigation of predisposition variants in cancer to date,
discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 …
discovering 853 pathogenic or likely pathogenic variants in 8% of 10,389 cases from 33 …
Functional variomics and network perturbation: connecting genotype to phenotype in cancer
Proteins interact with other macromolecules in complex cellular networks for signal
transduction and biological function. In cancer, genetic aberrations have been traditionally …
transduction and biological function. In cancer, genetic aberrations have been traditionally …
Computational drug repositioning for rare diseases in the era of precision medicine
Highlights•Next-generation sequencing technology accelerates rare disease research.•
Accumulated genomics information aids orphan drug development.•Novel drug …
Accumulated genomics information aids orphan drug development.•Novel drug …
The landscape of selection in 551 esophageal adenocarcinomas defines genomic biomarkers for the clinic
Esophageal adenocarcinoma (EAC) is a poor-prognosis cancer type with rapidly rising
incidence. Understanding of the genetic events driving EAC development is limited, and …
incidence. Understanding of the genetic events driving EAC development is limited, and …
Fundamental immune–oncogenicity trade-offs define driver mutation fitness
Missense driver mutations in cancer are concentrated in a few hotspots. Various
mechanisms have been proposed to explain this skew, including biased mutational …
mechanisms have been proposed to explain this skew, including biased mutational …
Integrative genomic analysis identifies key pathogenic mechanisms in primary mediastinal large B-cell lymphoma
A Mottok, SS Hung, EA Chavez… - Blood, The Journal …, 2019 - ashpublications.org
Primary mediastinal large B-cell lymphoma (PMBL) represents a clinically and
pathologically distinct subtype of large B-cell lymphomas. Furthermore, molecular studies …
pathologically distinct subtype of large B-cell lymphomas. Furthermore, molecular studies …
Systematic comparative analysis of single cell RNA-sequencing methods
J Ding, X Adiconis, SK Simmons, MS Kowalczyk… - BioRxiv, 2019 - biorxiv.org
ABSTRACT A multitude of single-cell RNA sequencing methods have been developed in
recent years, with dramatic advances in scale and power, and enabling major discoveries …
recent years, with dramatic advances in scale and power, and enabling major discoveries …
[HTML][HTML] Allele-specific transcriptional effects of subclonal copy number alterations enable genotype-phenotype mapping in cancer cells
Subclonal copy number alterations are a prevalent feature in tumors with high chromosomal
instability and result in heterogeneous cancer cell populations with distinct phenotypes …
instability and result in heterogeneous cancer cell populations with distinct phenotypes …
TMEM30A loss-of-function mutations drive lymphomagenesis and confer therapeutically exploitable vulnerability in B-cell lymphoma
D Ennishi, S Healy, A Bashashati, S Saberi, C Hother… - Nature medicine, 2020 - nature.com
Abstract Transmembrane protein 30A (TMEM30A) maintains the asymmetric distribution of
phosphatidylserine, an integral component of the cell membrane and 'eat-me'signal …
phosphatidylserine, an integral component of the cell membrane and 'eat-me'signal …