SlopMap: a software application tool for quick and flexible identification of similar sequences using exact k-mer matching [PDF]
arXiv, 2013 With the advent of Next-Generation (NG) sequencing, it has become possible to sequence an entire genome quickly and inexpensively. However, in some experiments one only needs to extract and assembly a portion of the sequence reads, for example when performing transcriptome studies, sequencing mitochondrial genomes, or characterizing exomes.
arxiv
Exome sequencing-based copy-number variation and loss of heterozygosity detection: ExomeCNV [PDF]
, 2011 J. Fah Sathirapongsasuti +7 more
openalex +1 more source
Inference on High-Dimensional Sparse Count Data [PDF]
arXiv, 2015 In a variety of application areas, there is a growing interest in analyzing high dimensional sparse count data, with sparsity exhibited by an over-abundance of zeros and small non-zero counts. Existing approaches for analyzing multivariate count data via Poisson or negative binomial log-linear hierarchical models with zero-inflation cannot flexibly ...
arxiv
Combined malonic and methylmalonic aciduria: exome sequencing reveals mutations in the ACSF3 gene in patients with a non-classic phenotype [PDF]
, 2011 Ahmed Alfares +9 more
openalex +1 more source
Exome sequencing allows for rapid gene identification in a Charcot‐Marie‐Tooth family [PDF]
, 2011 Gladys Montenegro +10 more
openalex +1 more source
TFisher Tests: Optimal and Adaptive Thresholding for Combining $p$-Values [PDF]
arXiv, 2018 For testing a group of hypotheses, tremendous $p$-value combination methods have been developed and widely applied since 1930's. Some methods (e.g., the minimal $p$-value) are optimal for sparse signals, and some others (e.g., Fisher's combination) are optimal for dense signals.
arxiv
Unlocking Mendelian disease using exome sequencing [PDF]
, 2011 Christian Gilissen +3 more
openalex +1 more source
Computational and statistical approaches to analyzing variants identified by exome sequencing [PDF]
, 2011 Nathan O. Stitziel +2 more
openalex +1 more source
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone
Annals of Clinical and Translational NeurologyObjective Most families with heritable neuromuscular disorders do not receive a molecular diagnosis. Here we evaluate diagnostic utility of exome, genome, RNA sequencing, and protein studies and provide evidence‐based recommendations for their ...
Rhett G. Marchant +29 more
doaj +1 more source