Clan genomics and the complex architecture of human disease.
about
HERVs expression in Autism Spectrum DisordersAn integrated map of genetic variation from 1,092 human genomesHuman CLP1 mutations alter tRNA biogenesis, affecting both peripheral and central nervous system functionEvaluating the role of the FUS/TLS-related gene EWSR1 in amyotrophic lateral sclerosisMedical case reports in the age of genomic medicineFollowing the genes: a framework for animal modeling of psychiatric disordersSomatic mosaicism: implications for disease and transmission geneticsAmish revisited: next-generation sequencing studies of psychiatric disorders among the Plain peopleA duplication CNV that conveys traits reciprocal to metabolic syndrome and protects against diet-induced obesity in mice and menStructural variation mutagenesis of the human genome: Impact on disease and evolution.New insights into the generation and role of de novo mutations in health and diseaseThe short and long of noncoding sequences in the control of vascular cell phenotypesA drosophila genetic resource of mutants to study mechanisms underlying human genetic diseasesRecurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 MutationsExome sequencing links corticospinal motor neuron disease to common neurodegenerative disordersIdentifying disease mutations in genomic medicine settings: current challenges and how to accelerate progressFusion of large-scale genomic knowledge and frequency data computationally prioritizes variants in epilepsyA Nondegenerate Code of Deleterious Variants in Mendelian Loci Contributes to Complex Disease RiskIntroduction to deep sequencing and its application to drug addiction research with a focus on rare variants.Genetics of hypertension: discoveries from the bench to human populations.Novel 9q34.11 gene deletions encompassing combinations of four Mendelian disease genes: STXBP1, SPTAN1, ENG, and TOR1A.DDIG-in: discriminating between disease-associated and neutral non-frameshifting micro-indelsWeighted pedigree-based statistics for testing the association of rare variantsReducing INDEL calling errors in whole genome and exome sequencing data.Rare variants analysis using penalization methods for whole genome sequence data.Homozygous and hemizygous CNV detection from exome sequencing data in a Mendelian disease cohort.DNA Sequence Analysis in Clinical Medicine, Proceeding Cautiously.An inherited duplication at the gene p21 Protein-Activated Kinase 7 (PAK7) is a risk factor for psychosis.Excess congenital non-synonymous variation in leukemia-associated genes in MLL- infant leukemia: a Children's Oncology Group report.Coherent somatic mutation in autoimmune disease.Comparison of several sequence-based association methods in pedigreesTranscriptome sequencing of a large human family identifies the impact of rare noncoding variantsCommentary on a GWAS: HDAC9 and the risk for ischaemic stroke.Exonic duplication CNV of NDRG1 associated with autosomal-recessive HMSN-Lom/CMT4DWhole genome sequencing of Turkish genomes reveals functional private alleles and impact of genetic interactions with Europe, Asia and AfricaUltra-rare mutation in long-range enhancer predisposes to thyroid carcinoma with high penetranceRapid whole-genome sequencing for genetic disease diagnosis in neonatal intensive care units.Variant interpretation through Bayesian fusion of frequency and genomic knowledgeFruit flies in biomedical research.Yeast Phenomics: An Experimental Approach for Modeling Gene Interaction Networks that Buffer Disease.
P2860
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P2860
Clan genomics and the complex architecture of human disease.
description
2011 nî lūn-bûn
@nan
2011年の論文
@ja
2011年論文
@yue
2011年論文
@zh-hant
2011年論文
@zh-hk
2011年論文
@zh-mo
2011年論文
@zh-tw
2011年论文
@wuu
2011年论文
@zh
2011年论文
@zh-cn
name
Clan genomics and the complex architecture of human disease.
@en
type
label
Clan genomics and the complex architecture of human disease.
@en
prefLabel
Clan genomics and the complex architecture of human disease.
@en
P2860
P1433
P1476
Clan genomics and the complex architecture of human disease.
@en
P2093
James R Lupski
Richard A Gibbs
P2860
P356
10.1016/J.CELL.2011.09.008
P407
P577
2011-09-01T00:00:00Z