Linkage disequilibrium—understanding the evolutionary past and mapping the medical future

M Slatkin - Nature Reviews Genetics, 2008 - nature.com
Linkage disequilibrium—the nonrandom association of alleles at different loci—is a sensitive
indicator of the population genetic forces that structure a genome. Because of the explosive …

The essence of SNPs

AJ Brookes - Gene, 1999 - Elsevier
Single nucleotide polymorphisms (SNPs) are an abundant form of genome variation,
distinguished from rare variations by a requirement for the least abundant allele to have a …

Discovering the anticancer potential of non-oncology drugs by systematic viability profiling

SM Corsello, RT Nagari, RD Spangler, J Rossen… - Nature cancer, 2020 - nature.com
Anticancer uses of non-oncology drugs have occasionally been found, but such discoveries
have been serendipitous. We sought to create a public resource containing the growth …

Initial sequencing and analysis of the human genome

US DOE Joint Genome Institute: Hawkins Trevor 4 … - Nature, 2001 - nature.com
The human genome holds an extraordinary trove of information about human development,
physiology, medicine and evolution. Here we report the results of an international …

A novel MHC class I–like gene is mutated in patients with hereditary haemochromatosis

JN Feder, A Gnirke, W Thomas, Z Tsuchihashi… - Nature …, 1996 - nature.com
Hereditary haemochromatosis (HH), which affects some 1 in 400 and has an estimated
carrier frequency of 1 in 10 individuals of Northern European descent, results in multi–organ …

Positionally cloned gene for a novel glomerular protein—nephrin—is mutated in congenital nephrotic syndrome

M Kestilä, U Lenkkeri, M Männikkö, J Lamerdin… - Molecular cell, 1998 - cell.com
Congenital nephrotic syndrome of the Finnish type (NPHS1) is an autosomal-recessive
disorder, characterized by massive proteinuria in utero and nephrosis at birth. In this study …

Genetic dissection of complex traits

ES Lander, NJ Schork - Focus, 2006 - Am Psychiatric Assoc
Medical genetics was revolutionized during the 1980s by the application of genetic mapping
to locate the genes responsible for simple Mendelian diseases. Most diseases and traits …

Order out of chaos: assembly of ligand binding sites in heparan sulfate

JD Esko, SB Selleck - Annual review of biochemistry, 2002 - annualreviews.org
▪ Abstract Virtually every cell type in metazoan organisms produces heparan sulfate. These
complex polysaccharides provide docking sites for numerous protein ligands and receptors …

[图书][B] Statistical genomics: linkage, mapping, and QTL analysis

BH Liu - 2017 - taylorfrancis.com
Statistical Genomics: Linkage, Mapping, and QTL Analysis Page 1 Page 2 Statistical Genomics
Linkage, Mapping, and QTL Analysis CRCPress Ben Hui Liu Boca Raton London New York …

Genetic signatures of strong recent positive selection at the lactase gene

T Bersaglieri, PC Sabeti, N Patterson… - The American Journal of …, 2004 - cell.com
In most human populations, the ability to digest lactose contained in milk usually disappears
in childhood, but in European-derived populations, lactase activity frequently persists into …