The DNA sequence of human chromosome 7

LDW Hillier, RS Fulton, LA Fulton, TA Graves… - Nature, 2003 - nature.com
Human chromosome 7 has historically received prominent attention in the human genetics
community, primarily related to the search for the cystic fibrosis gene and the frequent …

Next-generation sequencing: impact of exome sequencing in characterizing Mendelian disorders

B Rabbani, N Mahdieh, K Hosomichi… - Journal of human …, 2012 - nature.com
Traditional approaches for gene mapping from candidate gene studies to positional cloning
strategies have been applied for Mendelian disorders. Since 2005, next-generation …

Large-scale human promoter mapping using CpG islands

IP Ioshikhes, MQ Zhang - Nature genetics, 2000 - nature.com
Vertebrate genomic DNA is generally CpG depleted 1, 2, possibly because methylation of
cytosines at 80% of CpG dinucleotides results in their frequent mutation to thymine, and thus …

[HTML][HTML] Systematic subcellular localization of novel proteins identified by large‐scale cDNA sequencing

JC Simpson, R Wellenreuther, A Poustka… - EMBO …, 2000 - embopress.org
As a first step towards a more comprehensive functional characterization of cDNAs than
bioinformatic analysis, which can only make functional predictions for about half of the …

Comparing function and structure between entire proteomes

J Liu, B Rost - Protein Science, 2001 - Wiley Online Library
More than 30 organisms have been sequenced entirely. Here, we applied a variety of simple
bioinformatics tools to analyze 29 proteomes for representatives from all three kingdoms …

Stepwise evolution of the centriole-assembly pathway

Z Carvalho-Santos, P Machado… - Journal of cell …, 2010 - journals.biologists.com
The centriole and basal body (CBB) structure nucleates cilia and flagella, and is an essential
component of the centrosome, underlying eukaryotic microtubule-based motility, cell division …

Experimental annotation of the human genome using microarray technology

DD Shoemaker, EE Schadt, CD Armour, YD He… - Nature, 2001 - nature.com
The most important product of the sequencing of a genome is a complete, accurate
catalogue of genes and their products, primarily messenger RNA transcripts and their …

Completeness in structural genomics

D Vitkup, E Melamud, J Moult, C Sander - nature structural biology, 2001 - nature.com
Structural genomics has the goal of obtaining useful, three-dimensional models of all
proteins by a combination of experimental structure determination and comparative model …

Analysis of expressed sequence tags indicates 35,000 human genes

B Ewing, P Green - Nature genetics, 2000 - nature.com
The number of protein-coding genes in an organism provides a useful first measure of its
molecular complexity. Single-celled prokaryotes and eukaryotes typically have a few …

APOL1 risk variants enhance podocyte necrosis through compromising lysosomal membrane permeability

X Lan, A Jhaveri, K Cheng, H Wen… - American Journal …, 2014 - journals.physiology.org
Development of higher rates of nondiabetic glomerulosclerosis (GS) in African Americans
has been attributed to two coding sequence variants (G1 and G2) in the APOL1 gene. To …