[PDF] Top 20 Identification of multiple rare variants associated with a disease
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Identification of multiple rare variants associated with a disease
... In addition to differences in the collapsing strategy, our approach to analyzing each ethnic group versus the combined sample group shows how variations in popu- lation can affect the results. Six genes on average were ... See full document
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Identification of Inherited Retinal Disease-Associated Genetic Variants in 11 Candidate Genes
... the identification of novel candidate genes, we also revealed a novel mode of inheritance in two previously described IRD-associated ...the disease phenotype. In the autosomal dominant RP ... See full document
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Identification of Alzheimer’s disease–associated rare coding variants in the ECE2 gene
... The clinical phenotypes of the family with LOAD. We identified a large family with 4 AD patients over 2 gen- erations (family A) (Figure 1A). All affected individuals and healthy members of the third generation were ... See full document
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Identification of RUNX2 variants associated with cleidocranial dysplasia
... Inherited Disease panel, Agilent Focused exome panel or xGen Exome re- search panel ...software. Variants were annotated using SnpEff version ...following variants were filtered out: (i) ... See full document
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Identification of genetic variants in the <em>TNF</em> promoter associated with COPD secondary to tobacco smoking and its severity
... pulmonary disease (COPD) is an inflammatory disease that arises in response to noxious particles or ...without disease (SNC group, n=165) were included and the TNF promoter sequence was determined ... See full document
11
The impact of rare and low frequency genetic variants in common disease
... complex disease genet- ics is the identification and functional characterisation of causal variants, or mutations in relevant genes, responsible for association signals detected through GWASs ...risk ... See full document
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Exome sequencing study in patients with multiple sclerosis reveals variants associated with disease course
... genetic variants associated with MS disease course by applying, as a first step, an exome sequencing approach to a small discovery cohort of patients stratified according to benign and aggressive ... See full document
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Genetics of kidney failure and the evolving story of APOL1
... The identification of these genetic factors will be critical for expanding our understanding of renal development and function as well as for the design of novel therapeutics for kidney ... See full document
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Genetic variants associated with Crohn's disease
... predict disease behavior as well as the response to certain immune ...of disease and provide a more effective therapeutic ...genetic variants in CD and the identification of many genetic ... See full document
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Variants of ST8SIA1 are associated with risk of developing multiple sclerosis
... ST8SIA1 variants in this MS population and indicated preferential paternal ...in disease etiology ...prior identification of a specific risk gene variant had been ...its variants ... See full document
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Rare variants in the splicing regulatory elements of EXOC3L4 are associated with brain glucose metabolism in Alzheimer’s disease
... with rare variants were interrogated to define their contribution to the associ- ...of variants at each locus removed, as only one or three variants were removed, suggesting there is something ... See full document
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A clustering approach to identify rare variants associated with hypertension
... Surprisingly, the findings by the two methods show very little overlap: only one marker is detected by both methods at SNP position 141164276 in gene ZBTB38 . One gene, MAP4 , could be detected in different re- gions by ... See full document
5
Screening of novel restless legs syndrome–associated genes in French-Canadian families
... the disease, therefore its segregation should be interpreted with ...caution. Rare causative variants, at much lower frequency than the associated common single nucleotide polymorphism (SNP), ... See full document
6
Addition of multiple rare SNPs to known common variants improves the association between disease and gene in the Genetic Analysis Workshop 17 data
... adding multiple rare variants to common SNPs already associated with disease at the ...of disease (Table ...two rare SNPs (Figure ...of rare SNPs were actually more ... See full document
5
Rare variants in single minded 1 (SIM1) are associated with severe obesity
... We are indebted to the patients and their families for their partici- pation and to the physicians involved in the Genetics of Obesity Study, in particular, Stasia Hadjiyannakis, University of Ottawa, and Andrew Mellon, ... See full document
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Exome sequencing in mostly consanguineous Arab families with neurologic disease provides a high potential molecular diagnosis rate
... of multiple rare homozygous variants within extended genomic intervals of AOH that are dis- tributed throughout the genome (Additional file 1: Table ...are multiple candidate variants ... See full document
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The utility of exome sequencing for genetic diagnosis in a familial microcephaly epilepsy syndrome
... of variants using two strategies: 1) focusing on genes with homozygous variants; and, 2) focusing on genes associated with ...the rare variants in a single affected family member led to ... See full document
6
Rare ABCA7 variants in 2 German families with Alzheimer disease
... Recently, multiple rare loss-of- function variants in ABCA7 associated with AD risk and possible causal variants in familial cases and pedigrees have been identi- fied through sequencing ... See full document
8
Enhancing the discovery of rare disease variants through hierarchical modeling
... Clearly, there is a need to develop methods to effec- tively mine the data for rare variants that confer disease risk. I am optimistic that my approach is more effective than other methods in many ... See full document
6
The UK10K project identifies rare variants in health and disease
... of rare and low-frequency variants to human traits is largely ...sequence variants, generate a highly accurate imputation reference panel and identify novel alleles associated with levels of ... See full document
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