Structural variation in the sequencing era
Identifying structural variation (SV) is essential for genome interpretation but has been
historically difficult due to limitations inherent to available genome technologies. Detection …
historically difficult due to limitations inherent to available genome technologies. Detection …
[HTML][HTML] Translating RNA sequencing into clinical diagnostics: opportunities and challenges
SA Byron, KR Van Keuren-Jensen… - Nature Reviews …, 2016 - nature.com
With the emergence of RNA sequencing (RNA-seq) technologies, RNA-based biomolecules
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …
hold expanded promise for their diagnostic, prognostic and therapeutic applicability in …
[HTML][HTML] Multi-platform discovery of haplotype-resolved structural variation in human genomes
The incomplete identification of structural variants (SVs) from whole-genome sequencing
data limits studies of human genetic diversity and disease association. Here, we apply a …
data limits studies of human genetic diversity and disease association. Here, we apply a …
[HTML][HTML] Comprehensive evaluation of structural variation detection algorithms for whole genome sequencing
Abstract Background Structural variations (SVs) or copy number variations (CNVs) greatly
impact the functions of the genes encoded in the genome and are responsible for diverse …
impact the functions of the genes encoded in the genome and are responsible for diverse …
The genetic architecture of type 2 diabetes
The genetic architecture of common traits, including the number, frequency, and effect sizes
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …
of inherited variants that contribute to individual risk, has been long debated. Genome-wide …
[HTML][HTML] Inherited and de novo genetic risk for autism impacts shared networks
We performed a comprehensive assessment of rare inherited variation in autism spectrum
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …
disorder (ASD) by analyzing whole-genome sequences of 2,308 individuals from families …
Protein-coding repeat polymorphisms strongly shape diverse human phenotypes
Many human proteins contain domains that vary in size or copy number because of variable
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …
numbers of tandem repeats (VNTRs) in protein-coding exons. However, the relationships of …
[HTML][HTML] The UK10K project identifies rare variants in health and disease
Statistics group Ciampi Antonio 8 Greenwood Celia MT … - Nature, 2015 - nature.com
The contribution of rare and low-frequency variants to human traits is largely unexplored.
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …
Here we describe insights from sequencing whole genomes (low read depth, 7×) or exomes …
[HTML][HTML] Genomic analysis in the age of human genome sequencing
Affordable genome sequencing technologies promise to revolutionize the field of human
genetics by enabling comprehensive studies that interrogate all classes of genome …
genetics by enabling comprehensive studies that interrogate all classes of genome …
[HTML][HTML] Genomic patterns of de novo mutation in simplex autism
To further our understanding of the genetic etiology of autism, we generated and analyzed
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …
genome sequence data from 516 idiopathic autism families (2,064 individuals). This …