Clinical relevance of blood-based ctDNA analysis: mutation detection and beyond
Cell-free DNA (cfDNA) derived from tumours is present in the plasma of cancer patients. The
majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal …
majority of currently available studies on the use of this circulating tumour DNA (ctDNA) deal …
MET-dependent solid tumours—molecular diagnosis and targeted therapy
Attempts to develop MET-targeted therapies have historically focused on MET-expressing
cancers, with limited success. Thus, MET expression in the absence of a genomic marker of …
cancers, with limited success. Thus, MET expression in the absence of a genomic marker of …
CNVkit: genome-wide copy number detection and visualization from targeted DNA sequencing
Germline copy number variants (CNVs) and somatic copy number alterations (SCNAs) are
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …
of significant importance in syndromic conditions and cancer. Massively parallel sequencing …
Review of clinical next-generation sequencing
S Yohe, B Thyagarajan - Archives of pathology & …, 2017 - meridian.allenpress.com
Context.—Next-generation sequencing (NGS) is a technology being used by many
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
laboratories to test for inherited disorders and tumor mutations. This technology is new for …
Bioinformatics and computational tools for next-generation sequencing analysis in clinical genetics
Clinical genetics has an important role in the healthcare system to provide a definitive
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
diagnosis for many rare syndromes. It also can have an influence over genetics prevention …
Genomic variant annotation and prioritization with ANNOVAR and wANNOVAR
Recent developments in sequencing techniques have enabled rapid and high-throughput
generation of sequence data, democratizing the ability to compile information on large …
generation of sequence data, democratizing the ability to compile information on large …
Design and analysis of single-cell sequencing experiments
D Grün, A van Oudenaarden - Cell, 2015 - cell.com
Recent advances in single-cell sequencing hold great potential for exploring biological
systems with unprecedented resolution. Sequencing the genome of individual cells can …
systems with unprecedented resolution. Sequencing the genome of individual cells can …
Mitochondrial DNA copy number variation across human cancers
Mutations, deletions, and changes in copy number of mitochondrial DNA (mtDNA), are
observed throughout cancers. Here, we survey mtDNA copy number variation across 22 …
observed throughout cancers. Here, we survey mtDNA copy number variation across 22 …
–Omic and electronic health record big data analytics for precision medicine
PY Wu, CW Cheng, CD Kaddi… - IEEE Transactions …, 2016 - ieeexplore.ieee.org
Objective: Rapid advances of high-throughput technologies and wide adoption of electronic
health records (EHRs) have led to fast accumulation of–omic and EHR data. These …
health records (EHRs) have led to fast accumulation of–omic and EHR data. These …
The Genome 10K Project: a way forward
KP Koepfli, B Paten… - Annu. Rev. Anim …, 2015 - annualreviews.org
The Genome 10K Project was established in 2009 by a consortium of biologists and
genome scientists determined to facilitate the sequencing and analysis of the complete …
genome scientists determined to facilitate the sequencing and analysis of the complete …