[HTML][HTML] The impact of next-generation sequencing technologies on HLA research
K Hosomichi, T Shiina, A Tajima, I Inoue - Journal of human genetics, 2015 - nature.com
In the past decade, the development of next-generation sequencing (NGS) has paved the
way for whole-genome analysis in individuals. Research on the human leukocyte antigen …
way for whole-genome analysis in individuals. Research on the human leukocyte antigen …
Disease pathways and novel therapeutic targets in hypertrophic cardiomyopathy
H Ashrafian, WJ McKenna, H Watkins - Circulation research, 2011 - Am Heart Assoc
As described in earlier reviews in this series on the molecular basis of hypertrophic
cardiomyopathy (HCM), HCM is one of the archetypal monogenic cardiovascular disorders …
cardiomyopathy (HCM), HCM is one of the archetypal monogenic cardiovascular disorders …
[HTML][HTML] The landscape of viral associations in human cancers
Here, as part of the Pan-Cancer Analysis of Whole Genomes (PCAWG) Consortium, for
which whole-genome and—for a subset—whole-transcriptome sequencing data from 2,658 …
which whole-genome and—for a subset—whole-transcriptome sequencing data from 2,658 …
Whole-genome sequencing of 234 bulls facilitates mapping of monogenic and complex traits in cattle
The 1000 bull genomes project supports the goal of accelerating the rates of genetic gain in
domestic cattle while at the same time considering animal health and welfare by providing …
domestic cattle while at the same time considering animal health and welfare by providing …
Whole-genome sequencing of liver cancers identifies etiological influences on mutation patterns and recurrent mutations in chromatin regulators
A Fujimoto, Y Totoki, T Abe, KA Boroevich, F Hosoda… - Nature …, 2012 - nature.com
Hepatocellular carcinoma (HCC) is the third leading cause of cancer-related death
worldwide. We sequenced and analyzed the whole genomes of 27 HCCs, 25 of which were …
worldwide. We sequenced and analyzed the whole genomes of 27 HCCs, 25 of which were …
Sequence-specific error profile of Illumina sequencers
K Nakamura, T Oshima, T Morimoto… - Nucleic acids …, 2011 - academic.oup.com
We identified the sequence-specific starting positions of consecutive miscalls in the mapping
of reads obtained from the Illumina Genome Analyser (GA). Detailed analysis of the miscall …
of reads obtained from the Illumina Genome Analyser (GA). Detailed analysis of the miscall …
Accurate and comprehensive sequencing of personal genomes
SS Ajay, SCJ Parker, HO Abaan, KVF Fajardo… - Genome …, 2011 - genome.cshlp.org
As whole-genome sequencing becomes commoditized and we begin to sequence and
analyze personal genomes for clinical and diagnostic purposes, it is necessary to …
analyze personal genomes for clinical and diagnostic purposes, it is necessary to …
Novel calmodulin mutations associated with congenital arrhythmia susceptibility
N Makita, N Yagihara, L Crotti… - Circulation …, 2014 - Am Heart Assoc
Background—Genetic predisposition to life-threatening cardiac arrhythmias such as
congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular …
congenital long-QT syndrome (LQTS) and catecholaminergic polymorphic ventricular …
Genetic diversity and population structure of the endangered marsupial Sarcophilus harrisii (Tasmanian devil)
The Tasmanian devil (Sarcophilus harrisii) is threatened with extinction because of a
contagious cancer known as Devil Facial Tumor Disease. The inability to mount an immune …
contagious cancer known as Devil Facial Tumor Disease. The inability to mount an immune …
Optimized filtering reduces the error rate in detecting genomic variants by short-read sequencing
Distinguishing single-nucleotide variants (SNVs) from errors in whole-genome sequences
remains challenging. Here we describe a set of filters, together with a freely accessible …
remains challenging. Here we describe a set of filters, together with a freely accessible …