8 Result(s)
within
Michael C Zody
Human Genetics
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Article
Open AccessGenomic analysis of 116 autism families strengthens known risk genes and highlights promising candidates
Autism spectrum disorder (ASD) is a complex neurodevelopmental condition with a strong genetic component in which rare variants contribute significantly to risk. We performed whole genome and/or exome sequenci...
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Article
Open AccessPangenome-based genome inference allows efficient and accurate genoty** across a wide spectrum of variant classes
Typical genoty** workflows map reads to a reference genome before identifying genetic variants. Generating such alignments introduces reference biases and comes with substantial computational burden. Further...
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Article
Open AccessCoding and noncoding variants in EBF3 are involved in HADDS and simplex autism
Previous research in autism and other neurodevelopmental disorders (NDDs) has indicated an important contribution of protein-coding (coding) de novo variants (DNVs) within specific genes. The role of de novo n...
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Open AccessCorrection to: Sequencing and curation strategies for identifying candidate glioblastoma treatments
Following publication of the original article [1], it was reported that the given name of the fourteenth author was incorrectly published. The incorrect and the correct names are given below.
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Article
Open AccessSequencing and curation strategies for identifying candidate glioblastoma treatments
Prompted by the revolution in high-throughput sequencing and its potential impact for treating cancer patients, we initiated a clinical research study to compare the ability of different sequencing assays and ...
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Article
Open AccessNovel origins of copy number variation in the dog genome
Copy number variants (CNVs) account for substantial variation between genomes and are a major source of normal and pathogenic phenotypic differences. The dog is an ideal model to investigate mutational mechani...
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Article
Erratum to: Closing gaps in the human genome using sequencing by synthesis
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Article
Open AccessClosing gaps in the human genome using sequencing by synthesis
The most recent release of the finished human genome contains 260 euchromatic gaps (excluding chromosome Y). Recent work has helped explain a large number of these unresolved regions as 'structural' in nature....
