15 Result(s)
within
Michael C Zody
Human Genetics
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Article
Common deletion polymorphisms in the human genome
The locations and properties of common deletion variants in the human genome are largely unknown. We describe a systematic method for using dense SNP genotype data to discover deletions and its application to ...
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Efficient map** of mendelian traits in dogs through genome-wide association
With several hundred genetic diseases and an advantageous genome structure, dogs are ideal for map** genes that cause disease. Here we report the development of a genoty** array with ∼27,000 SNPs and show ...
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Deletion polymorphism upstream of IRGM associated with altered IRGM expression and Crohn's disease
Mark Daly, Ramnik Xavier and colleagues report that a 20-kb deletion polymorphism upstream of IRGM is associated with altered IRGM expression and Crohn's disease. They also show that manipulation of IRGM levels i...
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Article
Evolutionary toggling of the MAPT 17q21.31 inversion region
Evan Eichler and colleagues present a sequence assembly of the inverted H2 haplotype of human chromosome 17q21.31 and show that the inversion is polymorphic in other great ape species. Their analyses suggest t...
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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....
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Erratum to: Closing gaps in the human genome using sequencing by synthesis
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Article
Structural haplotypes and recent evolution of the human 17q21.31 region
Steven McCarroll and colleagues use a population genetics approach to identify nine different structural forms of the 17q21.31 inversion region. They show that duplications have arisen independently on both an...
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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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Mutations causing medullary cystic kidney disease type 1 lie in a large VNTR in MUC1 missed by massively parallel sequencing
Anthony Bleyer, Eric Lander, Mark Daly and colleagues show that frameshift mutations in a large VNTR of MUC1 cause medullary cystic kidney disease type 1. Their discovery sheds light on the biology of this diseas...
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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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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 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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Recent ultra-rare inherited variants implicate new autism candidate risk genes
Autism is a highly heritable complex disorder in which de novo mutation (DNM) variation contributes significantly to risk. Using whole-genome sequencing data from 3,474 families, we investigate another source ...
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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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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...
