Michael J. Bamshad
University of Washington
Publications 261
Last.Bartolomeu Acioli-Santos (FIOCRUZ: Oswaldo Cruz Foundation)H-Index: 3
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Dengue has become one of the most important worldwide arthropod-borne diseases. Dengue phenotypes are based on laboratorial and clinical exams, which are known to be inaccurate. Objective: We present a machine learning approach for the prediction of dengue fever severity based solely on human genome data. Methods: One hundred and two Brazilian dengue patients and controls were genotyped for 322 innate immunity Single Nucleotide Polymorphisms (SNPs). Our model uses a Support Vector Machine (SVM) ...
#1Timothy C. Cox (UMKC: University of Missouri–Kansas City)H-Index: 31
#2Andrew C. LidralH-Index: 30
Last.Mei Deng (UW: University of Washington)H-Index: 2
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#1Amélie Pinard (University of Texas Health Science Center at Houston)H-Index: 2
#2Stéphanie Guey (Paris Diderot University)H-Index: 1
Last.Françoise Bergametti (Paris Diderot University)H-Index: 1
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Moyamoya angiopathy (MMA) is a cerebrovascular disease characterized by occlusion of large arteries, which leads to strokes starting in childhood. Twelve altered genes predispose to MMA but the majority of cases of European descent do not have an identified genetic trigger. Exome sequencing from 39 trios were analyzed. We identified four de novo variants in three genes not previously associated with MMA: CHD4, CNOT3, and SETD5. Identification of additional rare variants in these genes in 158 unr...
#1Michael J. Bamshad (UW: University of Washington)H-Index: 50
#2Deborah A. Nickerson (UW: University of Washington)H-Index: 90
Last.Jessica X. Chong (UW: University of Washington)H-Index: 17
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Gene discovery for Mendelian conditions (MCs) offers a direct path to understanding genome function. Approaches based on next-generation sequencing applied at scale have dramatically accelerated gene discovery and transformed genetic medicine. Finding the genetic basis of ∼6,000–13,000 MCs yet to be delineated will require both technical and computational innovation, but will rely to a larger extent on meaningful data sharing.
#1Kimberly A. Aldinger (Seattle Children's Research Institute)H-Index: 16
#2Andrew E. Timms (Seattle Children's Research Institute)H-Index: 22
Last.Parthiv Haldipur (Seattle Children's Research Institute)H-Index: 4
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Cerebellar malformations are diverse congenital anomalies frequently associated with developmental disability. Although genetic and prenatal non-genetic causes have been described, no systematic analysis has been performed. Here, we present a large-exome sequencing study of Dandy-Walker malformation (DWM) and cerebellar hypoplasia (CBLH). We performed exome sequencing in 282 individuals from 100 families with DWM or CBLH, and we established a molecular diagnosis in 36 of 100 families, with a sig...
#1Ingrid S. Paine (BCM: Baylor College of Medicine)H-Index: 4
#2Jennifer E. Posey (BCM: Baylor College of Medicine)H-Index: 11
Last.Reid J. Robison (Foundation for Biomedical Research)H-Index: 13
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Members of a paralogous gene family in which variation in one gene is known to cause disease are eight times more likely to also be associated with human disease. Recent studies have elucidated DHX30 and DDX3X as genes for which pathogenic variant alleles are involved in neurodevelopmental disorders. We hypothesized that variants in paralogous genes encoding members of the DExD/H-box RNA helicase superfamily might also underlie developmental delay and/or intellectual disability (DD and/or ID) di...