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Familial colorectal cancer in Ashkenazim due to a hypermutable tract in APC
TLDR
A mutation (T to A at APC nucleotide 3920) found in 6% of Ashkenazi Jews and about 28% ofAshkenazim with a family history of CRC creates a small hypermutable region of the gene, indirectly causing cancer predisposition. Expand
Dominant and recessive deafness caused by mutations of a novel gene, TMC1, required for cochlear hair-cell function
TLDR
A locus for dominant deafness is reported, DFNA36, which maps to human chromosome 9q13–21 in a region overlapping the DFNB7/B11 locusfor recessive deafness, and eight mutations in a new gene, transmembrane cochlear-expressed gene 1 (TMC1), are identified. Expand
Mutations in the connexin 26 gene (GJB2) among Ashkenazi Jews with nonsyndromic recessive deafness.
TLDR
The high frequency of carriers of mutations in GJB2 predicts a prevalence of 1 deaf person among 1765 people, which may account for the majority of cases of nonsyndromic recessive deafness in the Ashkenazi Jewish population. Expand
PCAdmix: Principal Components-Based Assignment of Ancestry Along Each Chromosome in Individuals with Admixed Ancestry from Two or More Populations
TLDR
PCAdmix is presented, a Principal Components-based algorithm for determining ancestry along each chromosome from a high-density, genome-wide set of phased single-nucleotide polymorphism (SNP) genotypes of admixed individuals, and it is found to have better accuracy than LAMP when applied to three-population admixture. Expand
Dating the origin of the CCR5-Delta32 AIDS-resistance allele by the coalescence of haplotypes.
TLDR
The geographic cline of CCR5-Delta32 frequencies and its recent emergence are consistent with a historic strong selective event, driving its frequency upward in ancestral Caucasian populations. Expand
Jewish and Middle Eastern non-Jewish populations share a common pool of Y-chromosome biallelic haplotypes.
TLDR
The hypothesis that the paternal gene pools of Jewish communities from Europe, North Africa, and the Middle East descended from a common Middle Eastern ancestral population is supported, and most Jewish communities have remained relatively isolated from neighboring non-Jewish communities during and after the Diaspora is suggested. Expand
The History of African Gene Flow into Southern Europeans, Levantines, and Jews
TLDR
Genetic data is analyzed from about 40 West Eurasian groups to show that almost all Southern Europeans have inherited 1%–3% African ancestry with an average mixture date of around 55 generations ago, consistent with North African gene flow at the end of the Roman Empire and subsequent Arab migrations. Expand
Gene flow from North Africa contributes to differential human genetic diversity in southern Europe
TLDR
The source of genetic diversity in southern Europe has important biomedical implications and it is found that most disease risk alleles from genome-wide association studies follow expected patterns of divergence between Europe and North Africa, with the principal exception of multiple sclerosis. Expand
The case against perfection Ethics in the age of genetic engineering
TLDR
This book is an offshoot of a course, “Ethics, biotechnology, and the future of human nature,” with Douglas Melton, a well-regarded Harvard stem cell biologist, and is an excellent synthesis of the arguments for and against genetic enhancement. Expand
DREAM4: Combining Genetic and Dynamic Information to Identify Biological Networks and Dynamical Models
TLDR
This work investigates how three scalable methods can be combined into a useful network inference pipeline and demonstrates complementarity between this method and the two methods that take advantage of time-series data by combining the three into a pipeline whose ability to rank regulatory interactions is markedly improved compared to either method alone. Expand
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