[HTML][HTML] Large-scale exome sequencing study implicates both developmental and functional changes in the neurobiology of autism
We present the largest exome sequencing study of autism spectrum disorder (ASD) to date (n
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
= 35,584 total samples, 11,986 with ASD). Using an enhanced analytical framework to …
XLID-causing mutations and associated genes challenged in light of data from large-scale human exome sequencing
… ) is a developmental brain disorder commonly defined by an IQ below 70 and limitations
in both intellectual … All other genes were considered to be convincingly implicated in ID. …
in both intellectual … All other genes were considered to be convincingly implicated in ID. …
Distribution and clinical impact of functional variants in 50,726 whole-exome sequences from the DiscovEHR study
… Two studies combined exome sequencing results for over … Large-scale genetic studies of
integrated health care … of EHR-derived lipid values, newly implicating rare predicted LoFs, and …
integrated health care … of EHR-derived lipid values, newly implicating rare predicted LoFs, and …
Whole-exome sequencing in the evaluation of fetal structural anomalies: a prospective cohort study
S Petrovski, V Aggarwal, JL Giordano, M Stosic, K Wou… - The Lancet, 2019 - thelancet.com
… in our analysis, we focus on two tiers of qualifying genotypes. … Variants that qualify within
these two tiers were evaluated by … that caused the fetal developmental anomaly. Secondary …
these two tiers were evaluated by … that caused the fetal developmental anomaly. Secondary …
Large-scale discovery of novel genetic causes of developmental disorders
Nature, 2015 - nature.com
… these newly implicated genes suggests that normal development is being … From our exome
sequencing and exome-aCGH data, we … genes from this study we used two approaches. First, …
sequencing and exome-aCGH data, we … genes from this study we used two approaches. First, …
Exome sequencing followed by large-scale genotyping suggests a limited role for moderately rare risk factors of strong effect in schizophrenia
… Genetic studies that implicate variants in specific genes as risk … could inform and motivate
novel drug-development efforts. … association with schizophrenia by using both an allelic and a …
novel drug-development efforts. … association with schizophrenia by using both an allelic and a …
Large-scale targeted sequencing identifies risk genes for neurodevelopmental disorders
… two tests); DNMs of the 125 genes used in this study were identified from exome sequencing
… Such is the case for RNA polymerase-associated protein LEO1, recently implicated in ASD …
… Such is the case for RNA polymerase-associated protein LEO1, recently implicated in ASD …
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
… their contribution to disease development. 16 patients … had loss-of-function variants (20 of 51
[39%] vs two of 20 [10%]; p… have not previously been implicated in intellectual disability, with …
[39%] vs two of 20 [10%]; p… have not previously been implicated in intellectual disability, with …
Clinical application of whole-exome sequencing across clinical indications
… ) genome (16,569 base pairs) was amplified by two separate … that have not previously been
implicated in human disease or … to sequence variation, data about tissue or developmental …
implicated in human disease or … to sequence variation, data about tissue or developmental …
Molecular findings among patients referred for clinical whole-exome sequencing
… The Centers for Mendelian Genomics: a new large-scale … insight into both the application of
whole-exome sequencing to … addressed in studies of the ethical implications of genome-wide …
whole-exome sequencing to … addressed in studies of the ethical implications of genome-wide …