User profiles for I. M. Hall

Ira M Hall

Yale 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

…, P Flicek, H Li, KH Miga, B Paten, ED Jarvis, IM Hall… - Nature, 2022 - nature.com
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 …

[PDF][PDF] Genomic analysis in the age of human genome sequencing

T Lappalainen, AJ Scott, M Brandt, IM Hall - Cell, 2019 - cell.com
… 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 …

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 …

The complete sequence of a human genome

…, E Garrison, PGS Grady, TA Graves-Lindsay, IM Hall… - Science, 2022 - science.org
Since its initial release in 2000, the human reference genome has covered only the
euchromatic fraction of the genome, leaving important heterochromatic regions unfinished. …

Regulation of heterochromatic silencing and histone H3 lysine-9 methylation by RNAi

TA Volpe, C Kidner, IM Hall, G Teng, SIS Grewal… - Science, 2002 - science.org
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 …

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…

[HTML][HTML] LUMPY: a probabilistic framework for structural variant discovery

RM Layer, C Chiang, AR Quinlan, IM Hall - Genome biology, 2014 - Springer
Comprehensive discovery of structural variation (SV) from whole genome sequencing data
requires multiple detection signals including read-pair, split-read, read-depth and prior …

[HTML][HTML] A draft human pangenome reference

…, ED Jarvis, KH Miga, E Garrison, T Marschall, IM Hall… - Nature, 2023 - nature.com
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 …

Establishment and maintenance of a heterochromatin domain

IM Hall, GD Shankaranarayana, K Noma, N Ayoub… - Science, 2002 - science.org
The higher-order assembly of chromatin imposes structural organization on the genetic
information of eukaryotes and is thought to be largely determined by posttranslational …

Haplotype-resolved diverse human genomes and integrated analysis of structural variation

…, B Raeder, P Hasenfeld, AA Regier, HJ Abel, IM Hall… - Science, 2021 - science.org
INTRODUCTION The characterization of the full spectrum of genetic variation is critical to
understanding human health and disease. Recent technological advances have made it …