Shai Carmi

This study analyzes ancient DNA from three European sites to assess the genomic impact of the second plague pandemic, finding no strong positive selection but evidence of reduced long-range immigration post-pandemic.

The paper estimates the match rate of forensic investigative genetic genealogy using a national population register in Israel.

This paper proposes using embryo-level autozygosity as a biomarker to prioritize embryos with lower disease risk in preimplantation genetic testing for couples with consanguinity.

PEStimate predicts offspring disease risk after polygenic embryo screening by modeling risk reduction and accounting for embryo implantation failure.

The paper reports whole-genome sequencing of a mid-20th-century femur from Israel, revealing Arab ancestry instead of the proposed Ashkenazi Jewish origin.

This paper models polygenic embryo screening (PES) in IVF patients and finds it leads to small relative risk reductions in most cases due to low live birth rates and limited embryo availability.

The paper evaluates how using polygenic risk scores (PRS) or monogenic testing (PGT-M) for breast cancer risk can lead to errors in embryo selection due to interactions between genetic variants.

The paper investigates the association between maternal age and meiotic recombination failure with triploid/haploid conceptions in humans, identifying a maternal age effect and new types of genome-wide maternal isodiploidy.

The paper introduces a method to predict the direction of phenotypic differences between individuals using genomic data, achieving over 90% accuracy in many cases.

This paper introduces TTNE, a method for inferring recent effective population size trajectories from time-series IBD data, showing improved resolution over methods using contemporaneous samples.

The paper analyzes ROH distribution in consanguineous populations and suggests pre-pregnancy genetic counseling to assess recessive disorder risks.

This study examines the association between FMR1 premutation and ADHD or anxiety in 53,707 women, finding no significant links but associations with POI and high FSH.

The paper explains the sister repulsion phenomenon in Patterson's f-statistics by proposing a demographic model involving gene flow from an external source.

This study performs a GWAS and evaluates polygenic risk scores for AMD in Israeli populations, finding consistent associations with known loci and demonstrating predictive power of international PRS.

This study compares clinician and patient perspectives on polygenic embryo screening, finding divergent views on its use and ethical implications.

The paper surveys U.S. public attitudes toward polygenic embryo screening, finding high approval and interest despite concerns about eugenics and false expectations.

SHaploseek is a sequencing-only method for comprehensive preimplantation genetic testing that achieves high concordance with existing methods and improves sensitivity in subtelomeric regions.

The paper shows that genetic estimates of Polynesian island settlement dates are biased and reflect later inter-island contacts rather than initial colonization.

The paper analyzes genome-wide data from medieval German Jews to show the Ashkenazi founder event occurred before the 14th century, with genetic heterogeneity not present in modern Ashkenazi Jews.

The paper derives the limiting distribution of X-chromosomal coalescence times under first-cousin consanguineous mating, showing different effects based on consanguinity type.

This study examines the population structure and demographic history of British Pakistanis, revealing strong recent structure and low effective population sizes due to endogamy and consanguinity.

This paper predicts the utility of polygenic embryo screening for disease based on selection strategies and finds that selecting the lowest PRS embryo can significantly reduce disease risk.

The paper derives the variance and limiting distribution of coalescence times in a diploid consanguineous population model, showing scaling behavior similar to a standard coalescent.

The paper analyzes HLA haplotypes in SARS-CoV-2 infected individuals in Israel and finds no association between HLA subtypes and infection or hospitalization severity.

The paper calculates the probability that a relative of a proband with a high polygenic risk score (PRS) also has a high PRS, showing it is disease-independent and aligns with empirical results.

The paper identifies ultra-rare exonic variants in an Ashkenazi Jewish founder population, implicating cadherins in schizophrenia through recurrent mutations and altered purifying selection.

The paper estimates carrier rates and risk of severe autosomal recessive disorders in European populations using exome sequences.

This study shows that low coverage sequencing can effectively match relatives with genotyping arrays, achieving similar accuracy for close relatives and strong correlation for distant ones.

The paper develops Ped-sim, a method to simulate genetic data for relatives, showing that sex-specific maps and crossover interference significantly affect IBD sharing patterns.

This paper evaluates the potential benefits of using polygenic scores to select embryos for traits like height and cognitive function, finding limited gains with current predictors.