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Deep learning tool identifies mosaic mutations that cause disease

Genetic mutations cause hundreds of unsolved and untreatable disorders. Among them, DNA mutations in a small percentage of cells, called mosaic mutations, are extremely difficult to detect because they exist in a tiny percentage of the cells.

San diegoUnited statesUniversity of california san diegoMartinw breussJonathanl sebatReneed georgeLudmilb alexandrovChen liJoseph gleesonXin xuYuhe chengTaejeong baeAimee molineuxjanDanny antakiJiawei shenAlexei abyzov

New Computer Program Learns to Identify Mosaic Mutations That Cause Disease

New Computer Program Learns to Identify Mosaic Mutations That Cause Disease
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Chen liSan diegoUnited statesUniversity of california san diegoMartinw breussJonathanl sebatLiping weiReneed georgeLudmilb alexandrovJoseph gleesonXin xuYuhe chengTaejeong baeDanny antakiJiawei shenAlexei abyzov

New Computer Program Learns to Identify Mosaic Mutations That Cause Disease

New Computer Program Learns to Identify Mosaic Mutations That Cause Disease
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Broad spectrum of autism depends on spectrum of genetic factors

Broad spectrum of autism depends on spectrum of genetic factors
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San diegoUnited statesUniversity of california san diegoMariaj arranzCaitline careyJonathan sebatJames guevaraLiliam iakouchevaMadhusudan gujralElise robinsonKaren pierceAdamx maihoferJosephg gleesonAmaia hervasMarieke kleinDanny antaki

Broad Spectrum of Autism Depends on Spectrum of Genetic Factors

Genetic factors influence the severity of symptoms in children on the autism spectrum, and different genetic factors were associated with different symptoms of ASD.

San diegoUnited statesUniversity of california san diegoDanny antakiScott lafeeJonathan sebatBeyster centerUc san diego school of medicineSpectrum disorderNature geneticsCalifornia san diego schoolMolecular genomicsNeuropsychiatric diseasesDiego schoolNeuroscience newsletter