User profiles for I. M. Hall
Ira M HallYale University School of Medicine Verified email at yale.edu Cited by 40186 |
[HTML][HTML] The Human Pangenome Project: a global resource to map genomic diversity
The human reference genome is the most widely used resource in human genetics and is
due for a major update. Its current structure is a linear composite of merged haplotypes from …
due for a major update. Its current structure is a linear composite of merged haplotypes from …
[PDF][PDF] Genomic analysis in the age of human genome sequencing
… Deeper coverage improves variant detection sensitivity and also improves accuracy by
allowing for more sophisticated filtering schemes. In general, family-based or n = 1 rare disease …
allowing for more sophisticated filtering schemes. In general, family-based or n = 1 rare disease …
BEDTools: a flexible suite of utilities for comparing genomic features
AR Quinlan, IM Hall - Bioinformatics, 2010 - academic.oup.com
Motivation: Testing for correlations between different sets of genomic features is a fundamental
task in genomics research. However, searching for overlaps between features with …
task in genomics research. However, searching for overlaps between features with …
The complete sequence of a human genome
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …
Regulation of heterochromatic silencing and histone H3 lysine-9 methylation by RNAi
Eukaryotic heterochromatin is characterized by a high density of repeats and transposons,
as well as by modified histones, and influences both gene expression and chromosome …
as well as by modified histones, and influences both gene expression and chromosome …
Characterizing complex structural variation in germline and somatic genomes
AR Quinlan, IM Hall - Trends in Genetics, 2012 - cell.com
Genome structural variation (SV) is a major source of genetic diversity in mammals and a
hallmark of cancer. Although SV is typically defined by its canonical forms (duplication, deletion…
hallmark of cancer. Although SV is typically defined by its canonical forms (duplication, deletion…
[HTML][HTML] LUMPY: a probabilistic framework for structural variant discovery
Comprehensive discovery of structural variation (SV) from whole genome sequencing data
requires multiple detection signals including read-pair, split-read, read-depth and prior …
requires multiple detection signals including read-pair, split-read, read-depth and prior …
[HTML][HTML] A draft human pangenome reference
Here the Human Pangenome Reference Consortium presents a first draft of the human
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …
pangenome reference. The pangenome contains 47 phased, diploid assemblies from a cohort of …
Establishment and maintenance of a heterochromatin domain
The higher-order assembly of chromatin imposes structural organization on the genetic
information of eukaryotes and is thought to be largely determined by posttranslational …
information of eukaryotes and is thought to be largely determined by posttranslational …
Haplotype-resolved diverse human genomes and integrated analysis of structural variation
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …
understanding human health and disease. Recent technological advances have made it …