Palomaki, Glenn EKloza, Edward MLambert-Messerlian, Geralyn MHaddow, James ENeveux, Louis MEhrich, Mathiasvan den Boom, DirkBombard, Allan TDeciu, CosminGrody, Wayne W
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Prenatal screening for Down syndrome has improved, but the number of resulting invasive diagnostic procedures remains problematic. Measurement of circulating cell-free DNA in maternal plasma might offer improvement. A blinded, nested case-control study was designed within a cohort of 4664 pregnancies at high risk for Down syndrome. Fetal karyotypin...
Anney, Richard J LKenny, Elaine MO'Dushlaine, ColmYaspan, Brian LParkhomenka, ElenaBuxbaum, Joseph DSutcliffe, JamesGill, MichaelGallagher, LouiseBuxbaum, Joseph D
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Recent genome-wide association studies (GWAS) have implicated a range of genes from discrete biological pathways in the aetiology of autism. However, despite the strong influence of genetic factors, association studies have yet to identify statistically robust, replicated major effect genes or SNPs. We apply the principle of the SNP ratio test meth...
Danecek, PetrAuton, AdamAbecasis, GoncaloAlbers, Cornelis ABanks, EricDePristo, Mark AHandsaker, Robert ELunter, GertonMarth, Gabor TSherry, Stephen T
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The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was develop...
Random mutagenesis and phenotype screening provide a powerful method for dissecting microbial functions, but their results can be laborious to analyze experimentally. Each mutant strain may contain 50-100 random mutations, necessitating extensive functional experiments to determine which one causes the selected phenotype. To solve this problem, we ...
BackgroundSince the introduction of next-generation DNA sequencers the rapid increase in sequencer throughput, and associated drop in costs, has resulted in more than a dozen human genomes being resequenced over the last few years. These efforts are merely a prelude for a future in which genome resequencing will be commonplace for both biomedical r...
Leuchter, Andrew F.Cook, Ian A.Hamilton, Steven P.Narr, Katherine L.Toga, ArthurHunter, Aimee M.Faull, KymWhitelegge, JulianAndrews, Anne M.Loo, Joseph
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During the past several years, we have achieved a deeper understanding of the etiology/pathophysiology of major depressive disorder (MDD). However, this improved understanding has not translated to improved treatment outcome. Treatment often results in symptomatic improvement, but not full recovery. Clinical approaches are largely trial-and-error, ...
Autism Speaks' Autism Genetic Resource Exchange (AGRE) represents the largest private collection of genetic and phenotype data for families with ASD that is made available to qualified researchers worldwide. The availability of large and comprehensive registries that include detailed phenotype and genetic information for individuals affected with a...
A primary component of next-generation sequencing analysis is to align short reads to a reference genome, with each read aligned independently. However, reads that observe the same non-reference DNA sequence are highly correlated and can be used to better model the true variation in the target genome. A novel short-read micro re-aligner, SRMA, that...
Funari, Vincent A.Krakow, DeborahNevarez, LisetteChen, ZugenFunari, Tara L.Vatanavicharn, NithiwatWilcox, William R.Rimoin, David L.Nelson, Stanley F.Cohn, Daniel H.
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Diaphanospondylodysostosis (DSD) is a rare, recessively inherited, perinatal lethal skeletal disorder. The low frequency and perinatal lethality of DSD makes assembling a large set of families for traditional linkage-based genetic approaches challenging. By searching for evidence of unknown ancestral consanguinity, we identified two autozygous inte...
Although autism spectrum disorders (ASDs) have a substantial genetic basis, most of the known genetic risk has been traced to rare variants, principally copy number variants (CNVs). To identify common risk variation, the Autism Genome Project (AGP) Consortium genotyped 1558 rigorously defined ASD families for 1 million single-nucleotide polymorphis...
