[HTML][HTML] The impact of rare and low-frequency genetic variants in common disease
Despite thousands of genetic loci identified to date, a large proportion of genetic variation
predisposing to complex disease and traits remains unaccounted for. Advances in …
predisposing to complex disease and traits remains unaccounted for. Advances in …
Genome sequencing and population genomics in non-model organisms
H Ellegren - Trends in ecology & evolution, 2014 - cell.com
High-throughput sequencing technologies are revolutionizing the life sciences. The past 12
months have seen a burst of genome sequences from non-model organisms, in each case …
months have seen a burst of genome sequences from non-model organisms, in each case …
[HTML][HTML] ANGSD: analysis of next generation sequencing data
Background High-throughput DNA sequencing technologies are generating vast amounts of
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …
data. Fast, flexible and memory efficient implementations are needed in order to facilitate …
Large-scale whole-genome sequencing of the Icelandic population
DF Gudbjartsson, H Helgason, SA Gudjonsson, F Zink… - Nature …, 2015 - nature.com
Here we describe the insights gained from sequencing the whole genomes of 2,636
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …
Icelanders to a median depth of 20×. We found 20 million SNPs and 1.5 million insertions …
A statistical framework for SNP calling, mutation discovery, association mapping and population genetical parameter estimation from sequencing data
H Li - Bioinformatics, 2011 - academic.oup.com
Motivation: Most existing methods for DNA sequence analysis rely on accurate sequences
or genotypes. However, in applications of the next-generation sequencing (NGS), accurate …
or genotypes. However, in applications of the next-generation sequencing (NGS), accurate …
Genetic programs in human and mouse early embryos revealed by single-cell RNA sequencing
Z Xue, K Huang, C Cai, L Cai, C Jiang, Y Feng, Z Liu… - Nature, 2013 - nature.com
Mammalian pre-implantation development is a complex process involving dramatic changes
in the transcriptional architecture,,,. We report here a comprehensive analysis of …
in the transcriptional architecture,,,. We report here a comprehensive analysis of …
Range of genetic mutations associated with severe non-syndromic sporadic intellectual disability: an exome sequencing study
A Rauch, D Wieczorek, E Graf, T Wieland, S Endele… - The Lancet, 2012 - thelancet.com
Background The genetic cause of intellectual disability in most patients is unclear because
of the absence of morphological clues, information about the position of such genes, and …
of the absence of morphological clues, information about the position of such genes, and …
Searching for missing heritability: designing rare variant association studies
Genetic studies have revealed thousands of loci predisposing to hundreds of human
diseases and traits, revealing important biological pathways and defining novel therapeutic …
diseases and traits, revealing important biological pathways and defining novel therapeutic …
Genotype and SNP calling from next-generation sequencing data
R Nielsen, JS Paul, A Albrechtsen, YS Song - Nature Reviews Genetics, 2011 - nature.com
Meaningful analysis of next-generation sequencing (NGS) data, which are produced
extensively by genetics and genomics studies, relies crucially on the accurate calling of …
extensively by genetics and genomics studies, relies crucially on the accurate calling of …
The genetic landscape of mutations in Burkitt lymphoma
Burkitt lymphoma is characterized by deregulation of MYC, but the contribution of other
genetic mutations to the disease is largely unknown. Here, we describe the first completely …
genetic mutations to the disease is largely unknown. Here, we describe the first completely …