Tools for predicting the functional impact of nonsynonymous genetic variation
H Tang, PD Thomas - Genetics, 2016 - academic.oup.com
As personal genome sequencing becomes a reality, understanding the effects of genetic
variants on phenotype—particularly the impact of germline variants on disease risk and the …
variants on phenotype—particularly the impact of germline variants on disease risk and the …
Wide spectrum of NR5A1‐related phenotypes in 46, XY and 46, XX individuals
S Domenice, AZ Machado, FM Ferreira… - … Research Part C …, 2016 - Wiley Online Library
Steroidogenic factor 1 (NR5A1, SF‐1, Ad4BP) is a transcriptional regulator of genes
involved in adrenal and gonadal development and function. Mutations in NR5A1 have been …
involved in adrenal and gonadal development and function. Mutations in NR5A1 have been …
[HTML][HTML] REVEL: an ensemble method for predicting the pathogenicity of rare missense variants
NM Ioannidis, JH Rothstein, V Pejaver… - The American Journal of …, 2016 - cell.com
The vast majority of coding variants are rare, and assessment of the contribution of rare
variants to complex traits is hampered by low statistical power and limited functional data …
variants to complex traits is hampered by low statistical power and limited functional data …
[HTML][HTML] The ensembl variant effect predictor
W McLaren, L Gil, SE Hunt, HS Riat, GRS Ritchie… - Genome biology, 2016 - Springer
Abstract The Ensembl Variant Effect Predictor is a powerful toolset for the analysis,
annotation, and prioritization of genomic variants in coding and non-coding regions. It …
annotation, and prioritization of genomic variants in coding and non-coding regions. It …
M-CAP eliminates a majority of variants of uncertain significance in clinical exomes at high sensitivity
Variant pathogenicity classifiers such as SIFT, PolyPhen-2, CADD, and MetaLR assist in
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
interpretation of the hundreds of rare, missense variants in the typical patient genome by …
dbNSFP v3. 0: A one‐stop database of functional predictions and annotations for human nonsynonymous and splice‐site SNVs
The purpose of the dbNSFP is to provide a one‐stop resource for functional predictions and
annotations for human nonsynonymous single‐nucleotide variants (nsSNVs) and splice‐site …
annotations for human nonsynonymous single‐nucleotide variants (nsSNVs) and splice‐site …
Increased burden of ultra-rare protein-altering variants among 4,877 individuals with schizophrenia
By analyzing the exomes of 12,332 unrelated Swedish individuals, including 4,877
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
individuals affected with schizophrenia, in ways informed by exome sequences from 45,376 …
[HTML][HTML] Mutations in human accelerated regions disrupt cognition and social behavior
Comparative analyses have identified genomic regions potentially involved in human
evolution but do not directly assess function. Human accelerated regions (HARs) represent …
evolution but do not directly assess function. Human accelerated regions (HARs) represent …
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
Genes with de novo mutations are shared by four neuropsychiatric disorders discovered from NPdenovo database
Currently, many studies on neuropsychiatric disorders have utilized massive trio-based
whole-exome sequencing (WES) and whole-genome sequencing (WGS) to identify …
whole-exome sequencing (WES) and whole-genome sequencing (WGS) to identify …