Small insertions and deletions (INDELs) in human genomes

JM Mullaney, RE Mills, WS Pittard… - Human molecular …, 2010 - academic.oup.com
In this review, we focus on progress that has been made with detecting small insertions and
deletions (INDELs) in human genomes. Over the past decade, several million small INDELs …

INDEL detection, the 'Achilles heel'of precise genome editing: a survey of methods for accurate profiling of gene editing induced indels

EP Bennett, BL Petersen, IE Johansen… - Nucleic acids …, 2020 - academic.oup.com
Advances in genome editing technologies have enabled manipulation of genomes at the
single base level. These technologies are based on programmable nucleases (PNs) that …

Decoding long nanopore sequencing reads of natural DNA

AH Laszlo, IM Derrington, BC Ross, H Brinkerhoff… - Nature …, 2014 - nature.com
Nanopore sequencing of DNA is a single-molecule technique that may achieve long reads,
low cost and high speed with minimal sample preparation and instrumentation. Here, we …

SNP detection for massively parallel whole-genome resequencing

R Li, Y Li, X Fang, H Yang, J Wang… - Genome …, 2009 - genome.cshlp.org
Next-generation massively parallel sequencing technologies provide ultrahigh throughput at
two orders of magnitude lower unit cost than capillary Sanger sequencing technology. One …

PolymiRTS Database 3.0: linking polymorphisms in microRNAs and their target sites with human diseases and biological pathways

A Bhattacharya, JD Ziebarth, Y Cui - Nucleic acids research, 2014 - academic.oup.com
Poly morphisms in mi cro R NAs (miRNAs) and their t arget s ites (PolymiRTS) are known to
disrupt miRNA function, leading to the development of disease and variation in physiological …

An initial map of insertion and deletion (INDEL) variation in the human genome

RE Mills, CT Luttig, CE Larkins, A Beauchamp… - Genome …, 2006 - genome.cshlp.org
Although many studies have been conducted to identify single nucleotide polymorphisms
(SNPs) in humans, few studies have been conducted to identify alternative forms of natural …

A genome wide survey of SNP variation reveals the genetic structure of sheep breeds

JW Kijas, D Townley, BP Dalrymple, MP Heaton… - PloS one, 2009 - journals.plos.org
The genetic structure of sheep reflects their domestication and subsequent formation into
discrete breeds. Understanding genetic structure is essential for achieving genetic …

Human diallelic insertion/deletion polymorphisms

JL Weber, D David, J Heil, Y Fan, C Zhao… - The American Journal of …, 2002 - cell.com
We report the identification and characterization of 2,000 human diallelic insertion/deletion
polymorphisms (indels) distributed throughout the human genome. Candidate indels were …

Mining for single nucleotide polymorphisms and insertions/deletions in maize expressed sequence tag data

J Batley, G Barker, H O'Sullivan, KJ Edwards… - Plant …, 2003 - academic.oup.com
We have developed a computer based method to identify candidate single nucleotide
polymorphisms (SNPs) and small insertions/deletions from expressed sequence tag data …

Structural variants: changing the landscape of chromosomes and design of disease studies

L Feuk, CR Marshall, RF Wintle… - Human molecular …, 2006 - academic.oup.com
The near completeness of human chromosome sequences is facilitating accurate
characterization and assessment of all classes of genomic variation. Particularly, using the …