scispace - formally typeset
Open AccessJournal ArticleDOI

Accurate identification of single-nucleotide variants in whole-genome-amplified single cells

Reads0
Chats0
TLDR
By comparing SCMDA-amplified single cells with unamplify clones from the same population, this work validated the procedure as a firm foundation for standardized somatic-mutation analysis in single-cell genomics.
Abstract
Mutation analysis in single-cell genomes is prone to artifacts associated with cell lysis and whole-genome amplification. Here we addressed these issues by developing single-cell multiple displacement amplification (SCMDA) and a general-purpose single-cell-variant caller, SCcaller (https://github.com/biosinodx/SCcaller/). By comparing SCMDA-amplified single cells with unamplified clones from the same population, we validated the procedure as a firm foundation for standardized somatic-mutation analysis in single-cell genomics.

read more

Citations
More filters
Journal ArticleDOI

Eleven grand challenges in single-cell data science

David Lähnemann, +71 more
- 07 Feb 2020 - 
TL;DR: This compendium is for established researchers, newcomers, and students alike, highlighting interesting and rewarding problems for the coming years in single-cell data science.
Journal ArticleDOI

Differences between germline and somatic mutation rates in humans and mice.

TL;DR: The results indicate that the somatic mutation rate is almost two orders of magnitude higher than the germline mutation rate and that both mutation rates are significantly higher in mice than in humans.
Journal ArticleDOI

Single-cell multiomics: technologies and data analysis methods.

TL;DR: Novel technologies known collectively as ‘single-cell multiomics’ enable systematic, high-resolution profiling of DNA, RNA and proteins in individual cells that provides valuable data about gene regulation and molecular populations, and cellular processes during disease development and progression.
Journal ArticleDOI

Evaluation and minimization of Cas9-independent off-target DNA editing by cytosine base editors

TL;DR: The suite of CBEs characterized and engineered in this study collectively offer ~10–100-fold lower average Cas9-independent off-target DNA editing while maintaining robust on-target editing at most positions targetable by canonical CBEs, and thus are especially promising for applications in which off- target editing must be minimized.
Journal ArticleDOI

Unravelling biology and shifting paradigms in cancer with single-cell sequencing.

TL;DR: It is argued that the rapidly evolving field of single-cell sequencing has unshackled the cancer research community of these shortcomings and promises to unravel the biology of all facets of this disease.
References
More filters
Journal ArticleDOI

Fast and accurate short read alignment with Burrows–Wheeler transform

TL;DR: Burrows-Wheeler Alignment tool (BWA) is implemented, a new read alignment package that is based on backward search with Burrows–Wheeler Transform (BWT), to efficiently align short sequencing reads against a large reference sequence such as the human genome, allowing mismatches and gaps.
Journal ArticleDOI

The Genome Analysis Toolkit: A MapReduce framework for analyzing next-generation DNA sequencing data

TL;DR: The GATK programming framework enables developers and analysts to quickly and easily write efficient and robust NGS tools, many of which have already been incorporated into large-scale sequencing projects like the 1000 Genomes Project and The Cancer Genome Atlas.
Journal ArticleDOI

An integrated map of genetic variation from 1,092 human genomes

TL;DR: It is shown that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites.
Journal ArticleDOI

VarScan 2: Somatic mutation and copy number alteration discovery in cancer by exome sequencing

TL;DR: An analysis tool for the detection of somatic mutations and copy number alterations in exome data from tumor-normal pairs is presented and new light is shed on the landscape of genetic alterations in ovarian cancer.
Journal ArticleDOI

Sensitive detection of somatic point mutations in impure and heterogeneous cancer samples

TL;DR: The MuTect algorithm for calling somatic point mutations enables subclonal analysis of the whole-genome or whole-exome sequencing data being generated in large-scale cancer genomics projects as discussed by the authors.
Related Papers (5)