Integrating sequence and array data to create an improved 1000 Genomes Project haplotype reference panel

A major use of the 1000 Genomes Project (1000GP) data is genotype imputation in genome-wide association studies (GWAS). Here we develop a method to estimate haplotypes from low-coverage sequencing data that can take advantage of single-nucleotide polymorphism (SNP) microarray genotypes on the same samples. First the SNP array data are phased to build a backbone (or 'scaffold') of haplotypes across each chromosome. We then phase the sequence data 'onto' this haplotype scaffold. This approach can take advantage of relatedness between sequenced and non-sequenced samples to improve accuracy. We use this method to create a new 1000GP haplotype reference set for use by the human genetic community. Using a set of validation genotypes at SNP and bi-allelic indels we show that these haplotypes have lower genotype discordance and improved imputation performance into downstream GWAS samples, especially at low-frequency variants. © 2014 Macmillan Publishers Limited. All rights reserved

ANOMALOUS ELECTROSTATIC PHENOMENA IN EXCEPTIONAL SUBJECTS

A Tibetan meditation system reported in 1882 suggested a way to facilitate self-awareness by isolating students from electrical ground while they sat beneath a bar magnet and looked at their image in a polished copper wall. The research question: Does an electrostatic charge build up on electrically-isolated meditators? This question was tested with 10 "regular" subjects (typical meditators) and 9 "exceptional" subjects (experienced Non-Contact Therapeutic Touch (NCTT) therapists) in a Copper Wall Lab designed to isolate the subject from ground and also isolate, individually, four surrounding copper walls. front, back, up. and down. For detection of electrostatic potential, the subject's body and the four walls were individually "floated" on single-ended electrometer inputs. A pair of video cameras guarded against body-motion artifact. In 45-minute meditation sessions with the 10 regular meditators. no body-potential surges reached 4 [I. In comparison, in comparable meditation sessions with the NCTT meditators, many bodypotential surges greater than 4 v were found. Surges appearing in the records of NCTT meditators ranged from 4 v to 221 v (median = 8.3 v). with surge duration ranging from 0.5 s to 12.5 s (median = 3.6 s). During NCTT therapy sessions with patients, NCTT therapists produced body-potential surges ranging from 4 v to 190 v. The majority of surges were of negative polarity. Though there is a long tradition of Non-Contact Therapeutic Touch in both folklore and in religion, there are as yet no known psychophysiologic or biophysical explanations for such large-magnitude electrical phenomena, 103 times greater than large psychophysiologic skin-potential (GSP) changes related to emotional responses, 105 larger than EKG voltages, and 106 larger than EEG voltages. Since focus-of-attention by NCTT therapists is often a correlate factor in this anomalous phenomenon, results suggest the presence 0 previously-unmeasured human potential, as well as body potential. Various schemes are discussed for analysis of body-potential surge data, with an eye to determining body mechanisms that might be capable 0 generating electrostatic charge. KEYWORDS: Anomalous, electrostatic, fields, therapeutic touch, "healer," Tibetan, meditatio

ANOMALOUS ELECTROSTATIC PHENOMENA IN EXCEPTIONAL SUBJECTS

A Tibetan meditation system reported in 1882 suggested a way to facilitate self-awareness by isolating students from electrical ground while they sat beneath a bar magnet and looked at their image in a polished copper wall. The research question: Does an electrostatic charge build up on electrically-isolated meditators? This question was tested with 10 "regular" subjects (typical meditators) and 9 "exceptional" subjects (experienced Non-Contact Therapeutic Touch (NCTT) therapists) in a Copper Wall Lab designed to isolate the subject from ground and also isolate, individually, four surrounding copper walls. front, back, up. and down. For detection of electrostatic potential, the subject's body and the four walls were individually "floated" on single-ended electrometer inputs. A pair of video cameras guarded against body-motion artifact. In 45-minute meditation sessions with the 10 regular meditators. no body-potential surges reached 4 [I. In comparison, in comparable meditation sessions with the NCTT meditators, many bodypotential surges greater than 4 v were found. Surges appearing in the records of NCTT meditators ranged from 4 v to 221 v (median = 8.3 v). with surge duration ranging from 0.5 s to 12.5 s (median = 3.6 s). During NCTT therapy sessions with patients, NCTT therapists produced body-potential surges ranging from 4 v to 190 v. The majority of surges were of negative polarity. Though there is a long tradition of Non-Contact Therapeutic Touch in both folklore and in religion, there are as yet no known psychophysiologic or biophysical explanations for such large-magnitude electrical phenomena, 103 times greater than large psychophysiologic skin-potential (GSP) changes related to emotional responses, 105 larger than EKG voltages, and 106 larger than EEG voltages. Since focus-of-attention by NCTT therapists is often a correlate factor in this anomalous phenomenon, results suggest the presence 0 previously-unmeasured human potential, as well as body potential. Various schemes are discussed for analysis of body-potential surge data, with an eye to determining body mechanisms that might be capable 0 generating electrostatic charge. KEYWORDS: Anomalous, electrostatic, fields, therapeutic touch, "healer," Tibetan, meditatio