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A genotype-first approach to defining the subtypes of a complex disease. Prioritization of neurodevelopmental illness genes by discovery of latest mutations. Poduri A, Evrony GD, Cai X, Walsh CA. Somatic mutation, genomic variation, and neurological illness. Zhang J, Walsh MF, Wu G, Edmonson MN, Gruber TA, Easton J, et al. Yang Y, Muzny DM, Reid JG, Bainbridge MN, Willis A, Ward PA, et al. Meta-analysis of 2,104 trios provides support for 10 new genes for intellectual incapacity. Exome sequencing to determine de novo mutations in sporadic ALS trios. Distinct genetic architectures for syndromic and nonsyndromic congenital heart defects recognized by exome sequencing. Li H, Ruan J, Durbin R. Mapping short DNA sequencing reads and calling variants utilizing mapping high quality scores. A whole bacterial genome assembled de novo utilizing only nanopore sequencing information. Resolving the complexity of the human genome utilizing single-molecule sequencing. Ann and Bob have met each other’s partners and often host dinners where all of the significant others come over to socialize.

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