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.Electronic supplementary materialThe online version of this article (doi:10.1007/s00439-017-1821-8) contains supplementary material, which is available to authorized users.

This paper explores the relationship between sex worker activism and HIV-related discourse in Bangladesh, relating recent developments in activism to the influence of feminist thought. Following their eviction in 1991 from brothels from red light areas, Bangladeshi sex workers started a social movement, at just about the same time that programmes started to work with sex workers to reduce the transmission of HIV. This paper argues that both sex worker activism and HIV-prevention initiatives find impetus in feminist pro-sex-work perspectives, which place emphasis on individual and collective agency. However, by participating in these programmes, sex workers failed to contest the imagery of themselves as ‘vectors’ of HIV. In this way, they were unwittingly complicit in reproducing their identity as ‘polluting others’. Moreover, by focusing on individual behaviour and the agency of sex workers, HIV programmes ignored the fact that the ‘choices’ made by sex workers are influenced by a wide range of structural and discursive factors, including gender norms and notions of bodily purity, which in turn have implications for the construction of HIV-related risk.

This paper studies Hindu untouchable sweepers of Bangladesh, using a case study of two sweeper communities in Dhaka city. Due to their untouchability, Hindu sweepers in Bangladesh have historically been subjected to discrimination and marginalisation, and are deprived of choices such as free selection of occupation, access to housing, education and other benefits. Contending with the conventional notion that Hinduism maintains social order by caste hierarchies and divisions of labour, this shows how the sweepers of Dhaka city respond to the notion of untouchability and show resistance to caste discrimination. This paper also argues that it is not only a Hindu religious ideology but also historical, colonial, economic, political and social aspects of caste-based discrimination that can explain construction of the notion of Dalit and the marginalisation and resistance of Bangladeshi sweepers.

The empowerment of women is one of the central issues in the process of development of countries all over the world. The Government of India has made Empowerment of Women as one of the principal objectives of the Ninth Five Year Plan (1997)(1998)(1999)(2000)(2001)(2002) and also declared 2001 as the year of 'Women's Empowerment'. Women's empowerment is a process in which women gain greater share of control over resources -material, human and intellectual like knowledge, information, ideas and financial resources like money -and access to money and control over decision-making in the home, community, society and nation, and to gain `power'. Microfinance is the provision of small amounts of financial services to low income poor and very poor self-employed people. The participation of women in Self Help Groups (SHGs) made a significant impact on their empowerment both in social and economic aspects. This study addresses empowerment of Muslim women through microfinance and self-help groups in Chennai city of Tamilnadu. The information required for the study has been collected from both the primary and secondary sources. Further statistical analysis has been undertaken using various statistical tools like logistic regression, student t test, F test, Chi square test, ANOVA, Duncan Multiple Range Test (DMRT), the Wald Test, etc.

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