Boston College

About: Boston College is a(n) education organization based out in Boston, Massachusetts, United States. It is known for research contribution in the topic(s): Population & Poison control. The organization has 9749 authors who have published 25406 publication(s) receiving 1105145 citation(s). The organization is also known as: BC.

The Sequence Alignment/Map format and SAMtools

Abstract: Summary: The Sequence Alignment/Map (SAM) format is a generic alignment format for storing read alignments against reference sequences, supporting short and long reads (up to 128 Mbp) produced by different sequencing platforms. It is flexible in style, compact in size, efficient in random access and is the format in which alignments from the 1000 Genomes Project are released. SAMtools implements various utilities for post-processing alignments in the SAM format, such as indexing, variant caller and alignment viewer, and thus provides universal tools for processing read alignments. Availability: http://samtools.sourceforge.net Contact: [email protected]

The variant call format and VCFtools

Abstract: Summary: The variant call format (VCF) is a generic format for storing DNA polymorphism data such as SNPs, insertions, deletions and structural variants, together with rich annotations. VCF is usually stored in a compressed manner and can be indexed for fast data retrieval of variants from a range of positions on the reference genome. The format was developed for the 1000 Genomes Project, and has also been adopted by other projects such as UK10K, dbSNP and the NHLBI Exome Project. VCFtools is a software suite that implements various utilities for processing VCF files, including validation, merging, comparing and also provides a general Perl API. Availability: http://vcftools.sourceforge.net Contact: [email protected]

An integrated map of genetic variation from 1,092 human genomes

Abstract: By characterizing the geographic and functional spectrum of human genetic variation, the 1000 Genomes Project aims to build a resource to help to understand the genetic contribution to disease. Here we describe the genomes of 1,092 individuals from 14 populations, constructed using a combination of low-coverage whole-genome and exome sequencing. By developing methods to integrate information across several algorithms and diverse data sources, we provide a validated haplotype map of 38 million single nucleotide polymorphisms, 1.4 million short insertions and deletions, and more than 14,000 larger deletions. We show that individuals from different populations carry different profiles of rare and common variants, and that low-frequency variants show substantial geographic differentiation, which is further increased by the action of purifying selection. We show that evolutionary conservation and coding consequence are key determinants of the strength of purifying selection, that rare-variant load varies substantially across biological pathways, and that each individual contains hundreds of rare non-coding variants at conserved sites, such as motif-disrupting changes in transcription-factor-binding sites. This resource, which captures up to 98% of accessible single nucleotide polymorphisms at a frequency of 1% in related populations, enables analysis of common and low-frequency variants in individuals from diverse, including admixed, populations.

A meta-analytic test of intergroup contact theory.

Abstract: The present article presents a meta-analytic test of intergroup contact theory. With 713 independent samples from 515 studies, the meta-analysis finds that intergroup contact typically reduces intergroup prejudice. Multiple tests indicate that this finding appears not to result from either participant selection or publication biases, and the more rigorous studies yield larger mean effects. These contact effects typically generalize to the entire outgroup, and they emerge across a broad range of outgroup targets and contact settings. Similar patterns also emerge for samples with racial or ethnic targets and samples with other targets. This result suggests that contact theory, devised originally for racial and ethnic encounters, can be extended to other groups. A global indicator of Allport's optimal contact conditions demonstrates that contact under these conditions typically leads to even greater reduction in prejudice. Closer examination demonstrates that these conditions are best conceptualized as an interrelated bundle rather than as independent factors. Further, the meta-analytic findings indicate that these conditions are not essential for prejudice reduction. Hence, future work should focus on negative factors that prevent intergroup contact from diminishing prejudice as well as the development of a more comprehensive theory of intergroup contact.

Assessing the effects of quality, value, and customer satisfaction on consumer behavioral intentions in service environments

Abstract: The following study both synthesizes and builds on the efforts to conceptualize the effects of quality, satisfaction, and value on consumers’ behavioral intentions. Specifically, it reports an empirical assessment of a model of service encounters that simultaneously considers the direct effects of these variables on behavioral intentions. The study builds on recent advances in services marketing theory and assesses the relationships between the identified constructs across multiple service industries. Several competing theories are also considered and compared to the research model. A number of notable findings are reported including the empirical verification that service quality, service value, and satisfaction may all be directly related to behavioral intentions when all of these variables are considered collectively. The results further suggest that the indirect effects of the service quality and value constructs enhanced their impact on behavioral intentions.