H. Shizuya's research while affiliated with University of Illinois, Urbana-Champaign and other places

... However, many of the genes in the DS-CHD region are newly identified, and little is known about their expression patterns and/or function. At present, potential candidates known to be expressed in the fetal heart include SH3BGR, 48 DSCR2 49 (described as CHD 1 in Hubert et al., 50 WRB, 51 and HES1. 52 SH3BGR encodes a glutamic acidrich protein containing an SH3-binding domain whose expression is ubiquitous but highest in heart and skeletal muscle 48 (Lyons and Korenberg, unpublished data); DSCR2 encodes a leucine-rich protein thought to function in cell proliferation, which is expressed in adult heart, skeletal muscle, and other tissues; 49 WRB encodes a tryptophan-rich basic protein with a potential nuclear localization signal, which is expressed in adult heart, brain, skeletal muscle, and other tissues, and fetal brain, lung, liver, and kidney; 51 and HES1 is thought to function in cellular metabolism and is highly expressed in heart and skeletal muscle. ...

... The initial release of the human genome in 2001 [1] came at an expense of 2.7 billion USD [2]. Capillary sequencing, which was used at the time, cost about 1 USD per read (600-900 nucleotides), and the genome build was assembled in a semimanual manner by constructing the sequence of one Bacterial Artificial Chromosome (BAC) [3] at a time. Today, by contrast, standard Illumina protocols and automated computational pipelines produce a complete human genome or methylome for less than 1000 USD, which makes this technology a prime candidate to serve as the backbone for personalized medicine. ...

... To accomplish these goals, genomic DNA libraries have been constructed using large-insert cloning systems such as YACs (Burke et al., 1987), BAC (Shizuya et al., 1992(Shizuya et al., , 2001 and PACs (Ioannou et al., 1994). In particular, BAC libraries have contributed enormously to the success of genome sequencing and mapping (Adams et al., 2000;Lin et al., 1999;Mayer et al., 1999;Dunham et al., 1999;Hattori et al., 2000), gene cloning Salimath and Bhattacharyya, 1999;Vinatzer et al., 1998;Hohmann et al., 2003;Nam et al., 1999;Li et al., 1999), and gene prediction efforts (Nielsen et al., 1997;Antoch et al., 1997). ...

... Other important functions of these genes are the control of centrosome dynamics, chromosome segregation and cytokinesis (9). The BRCA1 gene is located on chromosome 17 (48), while the BRCA2 gene is located on chromosome 13 (49). Cells mutated for BRCA1 and BRCA2 genes show defects in DNA repair by homologous recombination, which is an important DNA repair pathway, implicating this repair pathway in protecting individuals against tumorigenesis (13). ...

... Inclusion of dDDH, ANI, core/conserved gene-based phylogenetics, AAI, POCP, MALDI-TOF-MS Comprehensive phenotype, genotype and protein-based taxonomy of prokaryotes [47, 49-55, 67, 71-74] The field evolved rapidly over the last decade with advances in DNA sequencing technology and computing making it increasingly affordable for systematics and ecological research [75]. As early as the late-1990s when 16S rRNA sequencing of genes from environmental samples was introduced [76] it was recognized that most of the prokaryotes had never been cultivated [77]. The sequences of the 5S, 16S and 23S rRNA genes provide little information about the organisms, so it was a major step forward when rapid advancements in single-cell genomics and metagenomics enabled the recovery of genome sequences, SAGs or MAGs, respectively. ...

... Interestingly, patients with clinical findings consistent with holoprosencephaly and deleted for 21q22.3 have been reported (23)(24)(25); the candidate region for this form of holoprosencephaly seems to be D21S113-qter (24)(25), which encompasses the chromosomal region containing the KS gene. ...

... The alligator and turtle BES reads were generated at The Institute for Genomic Research, Rockville, MD http://www.tigr.org and the emu BESs at the Broad Institute, Cambridge, MA http://www.broad.mit.edu using published protocols [2,27]. All sequences were processed with Phred [41] and CROSS_MATCH to remove poor quality bases (Q < 20) and vector sequences, respectively. ...

... Cloned DNA probes such as BACs, cosmids and locus specific probes, provided increased resolution and can reveal intrachromosomal rearrangments and precisely map breakpoints. Further high resolution molecular cytogenetic research, using such cloned DNA probes, will be necessary to confirm and resolve unanswered questions of New World primate evolution686970. These questions are urgent today because many of these primates are highly endangered. ...

... Since the Yq locus has an array of genes that are transcribed in the testis and governs a specific role in spermatogenesis, eventually infertility would result from losing these regions [2][3][4] . The male-specific region of the Y chromosome (MSY), which makes up 95% of the chromosome's length, contains the areas that define maleness in humans and the genes required for spermatogenesis 5 . The azoospermia factor (AZF) regions are located on the long arm of the Ychromosome within the MSY region, which contains genes necessary for spermatogenesis 6 . ...

... The haploid human genome is~3.2 billion base pairs, with about 98% comprising non-protein-coding DNA [1][2][3][4]. Genome-wide association studies (GWAS) have revealed that over 90% of disease-and trait-associated variants have been mapped within the non-coding genome [5][6][7][8][9]. ...