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  1. Article ; Online: Autozygome and high throughput confirmation of disease genes candidacy.

    Maddirevula, Sateesh / Alzahrani, Fatema / Al-Owain, Mohammed / Al Muhaizea, Mohammad A / Kayyali, Husam R / AlHashem, Amal / Rahbeeni, Zuhair / Al-Otaibi, Maha / Alzaidan, Hamad I / Balobaid, Ameera / El Khashab, Heba Y / Bubshait, Dalal K / Faden, Maha / Yamani, Suad Al / Dabbagh, Omar / Al-Mureikhi, Mariam / Jasser, Abdulla Al / Alsaif, Hessa S / Alluhaydan, Iram /
    Seidahmed, Mohammed Zain / Alabbasi, Bashair Hamza / Almogarri, Ibrahim / Kurdi, Wesam / Akleh, Hana / Qari, Alya / Al Tala, Saeed M / Alhomaidi, Suzan / Kentab, Amal Y / Salih, Mustafa A / Chedrawi, Aziza / Alameer, Seham / Tabarki, Brahim / Shamseldin, Hanan E / Patel, Nisha / Ibrahim, Niema / Abdulwahab, Firdous / Samira, Menasria / Goljan, Ewa / Abouelhoda, Mohamed / Meyer, Brian F / Hashem, Mais / Shaheen, Ranad / AlShahwan, Saad / Alfadhel, Majid / Ben-Omran, Tawfeg / Al-Qattan, Mohammad M / Monies, Dorota / Alkuraya, Fowzan S

    Genetics in medicine : official journal of the American College of Medical Genetics

    2018  Volume 21, Issue 3, Page(s) 736–742

    Abstract: Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel ... ...

    Abstract Purpose: Establishing links between Mendelian phenotypes and genes enables the proper interpretation of variants therein. Autozygome, a rich source of homozygous variants, has been successfully utilized for the high throughput identification of novel autosomal recessive disease genes. Here, we highlight the utility of the autozygome for the high throughput confirmation of previously published tentative links to diseases.
    Methods: Autozygome and exome analysis of patients with suspected Mendelian phenotypes. All variants were classified according to the American College of Medical Genetics and Genomics guidelines.
    Results: We highlight 30 published candidate genes (ACTL6B, ADAM22, AGTPBP1, APC, C12orf4, C3orf17 (NEPRO), CENPF, CNPY3, COL27A1, DMBX1, FUT8, GOLGA2, KIAA0556, LENG8, MCIDAS, MTMR9, MYH11, QRSL1, RUBCN, SLC25A42, SLC9A1, TBXT, TFG, THUMPD1, TRAF3IP2, UFC1, UFM1, WDR81, XRCC2, ZAK) in which we identified homozygous likely deleterious variants in patients with compatible phenotypes. We also identified homozygous likely deleterious variants in 18 published candidate genes (ABCA2, ARL6IP1, ATP8A2, CDK9, CNKSR1, DGAT1, DMXL2, GEMIN4, HCN2, HCRT, MYO9A, PARS2, PLOD3, PREPL, SCLT1, STX3, TXNRD2, WIPI2) although the associated phenotypes are sufficiently different from the original reports that they represent phenotypic expansion or potentially distinct allelic disorders.
    Conclusions: Our results should facilitate the timely relabeling of these candidate disease genes in relevant databases to improve the yield of clinical genomic sequencing.
    MeSH term(s) Biological Variation, Population/genetics ; Child ; Child, Preschool ; Diagnosis ; Diagnostic Techniques and Procedures ; Disease/genetics ; Female ; Genetic Testing/standards ; Genetic Variation ; Genomics/methods ; Genotype ; Heredity/genetics ; High-Throughput Nucleotide Sequencing/methods ; Homozygote ; Humans ; Infant ; Infant, Newborn ; Male ; Mutation ; Phenotype ; Sequence Analysis, DNA/methods
    Language English
    Publishing date 2018-09-21
    Publishing country United States
    Document type Journal Article ; Research Support, Non-U.S. Gov't
    ZDB-ID 1455352-1
    ISSN 1530-0366 ; 1098-3600
    ISSN (online) 1530-0366
    ISSN 1098-3600
    DOI 10.1038/s41436-018-0138-x
    Database MEDical Literature Analysis and Retrieval System OnLINE

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  2. Article ; Online: The landscape of genetic diseases in Saudi Arabia based on the first 1000 diagnostic panels and exomes.

    Monies, Dorota / Abouelhoda, Mohamed / AlSayed, Moeenaldeen / Alhassnan, Zuhair / Alotaibi, Maha / Kayyali, Husam / Al-Owain, Mohammed / Shah, Ayaz / Rahbeeni, Zuhair / Al-Muhaizea, Mohammad A / Alzaidan, Hamad I / Cupler, Edward / Bohlega, Saeed / Faqeih, Eissa / Faden, Maha / Alyounes, Banan / Jaroudi, Dyala / Goljan, Ewa / Elbardisy, Hadeel /
    Akilan, Asma / Albar, Renad / Aldhalaan, Hesham / Gulab, Shamshad / Chedrawi, Aziza / Al Saud, Bandar K / Kurdi, Wesam / Makhseed, Nawal / Alqasim, Tahani / El Khashab, Heba Y / Al-Mousa, Hamoud / Alhashem, Amal / Kanaan, Imaduddin / Algoufi, Talal / Alsaleem, Khalid / Basha, Talal A / Al-Murshedi, Fathiya / Khan, Sameena / Al-Kindy, Adila / Alnemer, Maha / Al-Hajjar, Sami / Alyamani, Suad / Aldhekri, Hasan / Al-Mehaidib, Ali / Arnaout, Rand / Dabbagh, Omar / Shagrani, Mohammad / Broering, Dieter / Tulbah, Maha / Alqassmi, Amal / Almugbel, Maisoon / AlQuaiz, Mohammed / Alsaman, Abdulaziz / Al-Thihli, Khalid / Sulaiman, Raashda A / Al-Dekhail, Wajeeh / Alsaegh, Abeer / Bashiri, Fahad A / Qari, Alya / Alhomadi, Suzan / Alkuraya, Hisham / Alsebayel, Mohammed / Hamad, Muddathir H / Szonyi, Laszlo / Abaalkhail, Faisal / Al-Mayouf, Sulaiman M / Almojalli, Hamad / Alqadi, Khalid S / Elsiesy, Hussien / Shuaib, Taghreed M / Seidahmed, Mohammed Zain / Abosoudah, Ibraheem / Akleh, Hana / AlGhonaium, Abdulaziz / Alkharfy, Turki M / Al Mutairi, Fuad / Eyaid, Wafa / Alshanbary, Abdullah / Sheikh, Farrukh R / Alsohaibani, Fahad I / Alsonbul, Abdullah / Al Tala, Saeed / Balkhy, Soher / Bassiouni, Randa / Alenizi, Ahmed S / Hussein, Maged H / Hassan, Saeed / Khalil, Mohamed / Tabarki, Brahim / Alshahwan, Saad / Oshi, Amira / Sabr, Yasser / Alsaadoun, Saad / Salih, Mustafa A / Mohamed, Sarar / Sultana, Habiba / Tamim, Abdullah / El-Haj, Moayad / Alshahrani, Saif / Bubshait, Dalal K / Alfadhel, Majid / Faquih, Tariq / El-Kalioby, Mohamed / Subhani, Shazia / Shah, Zeeshan / Moghrabi, Nabil / Meyer, Brian F / Alkuraya, Fowzan S

    Human genetics

    2017  Volume 136, Issue 8, Page(s) 921–939

    Abstract: In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period ...

    Abstract In this study, we report the experience of the only reference clinical next-generation sequencing lab in Saudi Arabia with the first 1000 families who span a wide-range of suspected Mendelian phenotypes. A total of 1019 tests were performed in the period of March 2016-December 2016 comprising 972 solo (index only), 14 duo (parents or affected siblings only), and 33 trio (index and parents). Multigene panels accounted for 672 tests, while whole exome sequencing (WES) represented the remaining 347 tests. Pathogenic or likely pathogenic variants that explain the clinical indications were identified in 34% (27% in panels and 43% in exomes), spanning 279 genes and including 165 novel variants. While recessive mutations dominated the landscape of solved cases (71% of mutations, and 97% of which are homozygous), a substantial minority (27%) were solved on the basis of dominant mutations. The highly consanguineous nature of the study population also facilitated homozygosity for many private mutations (only 32.5% of the recessive mutations are founder), as well as the first instances of recessive inheritance of previously assumed strictly dominant disorders (involving ITPR1, VAMP1, MCTP2, and TBP). Surprisingly, however, dual molecular diagnosis was only observed in 1.5% of cases. Finally, we have encountered candidate variants in 75 genes (ABHD6, ACY3, ADGRB2, ADGRG7, AGTPBP1, AHNAK2, AKAP6, ASB3, ATXN1L, C17orf62, CABP1, CCDC186, CCP110, CLSTN2, CNTN3, CNTN5, CTNNA2, CWC22, DMAP1, DMKN, DMXL1, DSCAM, DVL2, ECI1, EP400, EPB41L5, FBXL22, GAP43, GEMIN7, GIT1, GRIK4, GRSF1, GTRP1, HID1, IFNL1, KCNC4, LRRC52, MAP7D3, MCTP2, MED26, MPP7, MRPS35, MTDH, MTMR9, NECAP2, NPAT, NRAP, PAX7, PCNX, PLCH2, PLEKHF1, PTPN12, QKI, RILPL2, RIMKLA, RIMS2, RNF213, ROBO1, SEC16A, SIAH1, SIRT2, SLAIN2, SLC22A20, SMDT1, SRRT, SSTR1, ST20, SYT9, TSPAN6, UBR4, VAMP4, VPS36, WDR59, WDYHV1, and WHSC1) not previously linked to human phenotypes and these are presented to accelerate post-publication matchmaking. Two of these genes were independently mutated in more than one family with similar phenotypes, which substantiates their link to human disease (AKAP6 in intellectual disability and UBR4 in early dementia). If the novel candidate disease genes in this cohort are independently confirmed, the yield of WES will have increased to 83%, which suggests that most "negative" clinical exome tests are unsolved due to interpretation rather than technical limitations.
    MeSH term(s) Consanguinity ; Exome ; Female ; Genetic Diseases, Inborn/diagnosis ; Genetic Diseases, Inborn/epidemiology ; Genetic Testing ; Genome, Human ; High-Throughput Nucleotide Sequencing ; Homozygote ; Humans ; Male ; Molecular Sequence Annotation ; Morbidity ; Mutation ; Phenotype ; Reproducibility of Results ; Saudi Arabia/epidemiology ; Sequence Analysis, DNA
    Language English
    Publishing date 2017-06-09
    Publishing country Germany
    Document type Journal Article
    ZDB-ID 223009-4
    ISSN 1432-1203 ; 0340-6717
    ISSN (online) 1432-1203
    ISSN 0340-6717
    DOI 10.1007/s00439-017-1821-8
    Database MEDical Literature Analysis and Retrieval System OnLINE

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    In stock of ZB MED Cologne/Königswinter

    Zs.A 256: Show issues Location:
    Je nach Verfügbarkeit (siehe Angabe bei Bestand)
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    Jg. 1995 - 2021: Lesesall (1.OG)
    ab Jg. 2022: Lesesaal (EG)

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